CHEK2 — 4015 ClinVar variants

All ClinVar germline CHEK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1746 flagged for review →

454 Pathogenic · 113 Pathogenic/Likely pathogenic · 210 Likely pathogenic · 267 Conflicting · 78 Benign · 210 Benign/Likely benign · 714 Likely benign · 1969 Uncertain significance

Full CHEK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1746

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CHEK2 p.Ala17Ser Pathogenic No assertion criteria
bone osteosarcoma

Predictors agree, ClinVar conflicts 119

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CHEK2 p.Ala104Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ala215Thr Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Ala230Pro Conflicting Single submitter
CHEK2-related cancer predisposition
CHEK2 p.Ala392Val Conflicting Single submitter
bone osteosarcoma
CHEK2 p.Ala530Thr Conflicting Single submitter
hereditary nonpolyposis colon cancer
CHEK2 p.Ala537Val Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ala540Thr Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Arg137Gln Conflicting Single submitter
Breast and/or ovarian cancer
CHEK2 p.Arg181Cys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Arg318His Conflicting Single submitter
CHEK2-related cancer predisposition
CHEK2 p.Arg346Cys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Arg346His Conflicting Single submitter
Predisposition to cancer
CHEK2 p.Arg3Trp Conflicting Single submitter
Hereditary cancer
CHEK2 p.Arg406Cys Conflicting Single submitter
Predisposition to cancer
CHEK2 p.Arg406His Conflicting Single submitter
Breast and/or ovarian cancer
CHEK2 p.Arg474Cys Conflicting Single submitter
bone osteosarcoma
CHEK2 p.Arg474His Conflicting Single submitter
CHEK2-related disorder
CHEK2 p.Arg493Ser Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Arg519Gln Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Arg519Leu Conflicting Single submitter
Predisposition to cancer
CHEK2 p.Arg523Cys Conflicting Single submitter
bone osteosarcoma
CHEK2 p.Arg523His Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Arg523Leu Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Arg523Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asn112Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asn184Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asn281Ser Conflicting Single submitter
hereditary nonpolyposis colon cancer
CHEK2 p.Asn405Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asn446Asp Conflicting Single submitter
Predisposition to cancer
CHEK2 p.Asn503Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asp134His Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Asp162Gly Conflicting Single submitter
prostate cancer, hereditary
CHEK2 p.Asp311Asn Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asp347Asn Conflicting Single submitter
CHEK2-related disorder
CHEK2 p.Asp368Asn Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asp438Tyr Conflicting Single submitter
Hereditary cancer
CHEK2 p.Asp490Glu Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Asp497Asn Conflicting Single submitter
CHEK2-related disorder
CHEK2 p.Cys108Arg Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Cys18Ser Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Cys420Tyr Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Gln510His Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Glu219Asp Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Glu295Lys Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Glu302Lys Conflicting Single submitter
Predisposition to cancer
CHEK2 p.Glu359Gly Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Glu359Lys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Glu394Lys Conflicting Single submitter
bone osteosarcoma
CHEK2 p.Glu501Lys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Glu504Gln Conflicting Single submitter
Hereditary cancer
CHEK2 p.Glu531Gln Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Glu531Lys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Gly167Glu Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Gly306Ala Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Gly529Asp Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Gly529Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.His13Arg Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.His143Arg Conflicting Single submitter
Li-Fraumeni syndrome
CHEK2 p.His143Tyr Conflicting Single submitter
hereditary nonpolyposis colon cancer
CHEK2 p.His371Tyr Conflicting Single submitter
CHEK2-related disorder
CHEK2 p.His483Arg Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ile160Arg Conflicting Single submitter
Predisposition to cancer
CHEK2 p.Ile160Leu Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Ile160Met Conflicting Single submitter
Breast and/or ovarian cancer
CHEK2 p.Ile160Thr Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ile221Met Conflicting Single submitter
Predisposition to cancer
CHEK2 p.Ile221Val Conflicting Single submitter
CHEK2-related disorder
CHEK2 p.Ile251Phe Conflicting Single submitter
bone osteosarcoma
CHEK2 p.Ile38Thr Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Ile38Val Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Leu183Phe Conflicting Single submitter
CHEK2-related disorder
CHEK2 p.Leu396Val Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Leu436Met Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Leu508Val Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Leu512Val Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Leu543Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Lys119Arg Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Lys312Arg Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Lys320Asn Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Lys365Asn Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Lys492Arg Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Met222Val Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Met46Ile Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Phe475Ile Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Pro21Thr Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Pro509Leu Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Pro509Ser Conflicting Single submitter
prostate cancer, hereditary
CHEK2 p.Pro522Ser Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Pro536Leu Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser16Gly Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser194Cys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser228Asn Conflicting Single submitter
hereditary breast ovarian cancer syndrome
CHEK2 p.Ser228Thr Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Ser24Gly Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser252Asn Conflicting Single submitter
hereditary nonpolyposis colon cancer
CHEK2 p.Ser372Cys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser500Cys Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser500Phe Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser505Pro Conflicting Single submitter
CHEK2-related cancer predisposition
CHEK2 p.Ser505Thr Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Ser53Thr Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Ser5Leu Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Thr383Ala Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Thr387Ala Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Thr506Ala Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Thr533Ala Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Thr89Ile Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Tyr139His Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Tyr159His Conflicting Single submitter
prostate cancer, hereditary
CHEK2 p.Tyr390Cys Conflicting Single submitter
hereditary breast ovarian cancer syndrome
CHEK2 p.Tyr424His Conflicting Single submitter
bone osteosarcoma
CHEK2 p.Tyr72Cys Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Val198Ile Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Val25Ala Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Val25Ile Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Val399Asp Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Val399Phe Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Val455Ile Conflicting Single submitter
hereditary nonpolyposis colon cancer
CHEK2 p.Val468Ile Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 16

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

CHEK2 c.1095+2dup Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.1096-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.1259+2T>C Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.1260-1G>A Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.593-1G>C Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.593-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.593-2A>T Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.683+2T>C Conflicting Single submitter
hereditary breast carcinoma
CHEK2 c.847-2A>T Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.908+2dup Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 c.-6-2A>C Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Gln510Ter Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Met1Ile Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Met1Leu Conflicting Single submitter
hereditary breast carcinoma
CHEK2 p.Met1Phe Conflicting Single submitter
hereditary neoplastic syndrome
CHEK2 p.Met1Val Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 1251

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1251

CHEK2 p.Ala104Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala104Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala158Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala158Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala190Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala190Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala230Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala230Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala237Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala237Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala247Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala247Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala247Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala257Val Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala264Ser Uncertain significance Multiple submitters
CHEK2-related cancer predisposition
CHEK2 p.Ala294Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala322Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala392Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala392Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala392Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala402Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala407Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala407Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala407Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala459Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala459Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala473Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala513Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala513Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala527Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala527Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala530Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala537Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala540Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala540Val Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala541Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala91Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala91Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala91Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala94Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala94Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala9Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala9Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala9Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg117Met Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg117Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg132Ile Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg137Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg145Pro Uncertain significance Multiple submitters
CHEK2-related cancer predisposition
CHEK2 p.Arg148Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg148Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg181Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg195Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg262Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg318Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg346Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg346Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg3Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg3Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg3Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg406Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg406Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg431Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg431Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg431Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg474Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg474Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg482Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg482Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg493Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg519Gly Uncertain significance Multiple submitters
hereditary nonpolyposis colon cancer
CHEK2 p.Arg523Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg95Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg95Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn105His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn110Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn110Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn110Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn112Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn154His Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn154Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn154Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn154Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn166Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn184Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn185Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn186Ser Uncertain significance Multiple submitters
bone osteosarcoma
CHEK2 p.Asn196Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn269Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn281Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn316Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn341Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn352Asp Uncertain significance Multiple submitters
CHEK2-related cancer predisposition
CHEK2 p.Asn352His Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn352Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn352Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn352Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn405Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn446Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn503Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn503Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp101Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp101Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp101Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp118Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp126Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp126Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp134Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp162Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp162Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp203Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp203Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp203Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp218Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp265Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp265Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp265His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp293Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp293Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp296Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp296Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp296Val Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp347Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp347Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp347His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp361His Uncertain significance Multiple submitters
bone osteosarcoma
CHEK2 p.Asp361Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp368Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp409Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp409Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp409Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp409His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp438Asn Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp438Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp438Val Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp461Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp470Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp470Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp488Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp488Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp497Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp497Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp497Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp6Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp6His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp77Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp77Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Cys108Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Cys18Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Cys18Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 359

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 359

CHEK2 p.Ala190Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala237Val Uncertain significance Multiple submitters
bone osteosarcoma
CHEK2 p.Ala334Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala334Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala334Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala334Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala459Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala459Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala480Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ala480Thr Uncertain significance Multiple submitters
hereditary nonpolyposis colon cancer
CHEK2 p.Ala480Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala98Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ala98Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg117Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg180Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg217Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg240Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg318Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg318Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg406Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg521Gln Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
CHEK2 p.Arg521Leu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Arg521Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg521Trp Uncertain significance Multiple submitters
Hereditary cancer
CHEK2 p.Arg535Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Arg95Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn105Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asn105Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn186Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn186Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asn186Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp111Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp111Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp118Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp126His Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp203Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp207Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp207Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp218Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp296Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp296His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp311Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp311His Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Asp461Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp488Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Asp488Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Cys108Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Cys121Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Cys121Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Cys124Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Cys231Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Cys284Tyr Uncertain significance Multiple submitters
prostate cancer, hereditary
CHEK2 p.Gln496Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Glu149Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Glu149Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Glu188Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Glu239Val Uncertain significance Multiple submitters
CHEK2-related cancer predisposition
CHEK2 p.Glu302Asp Uncertain significance Multiple submitters
CHEK2-related disorder
CHEK2 p.Glu360Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Glu502Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Glu524Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Glu70Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Glu76Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Gly151Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Gly151Cys Uncertain significance Multiple submitters
Breast and/or ovarian cancer
CHEK2 p.Gly151Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Gly165Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Gly315Arg Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Gly400Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.His163Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.His371Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ile248Leu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile248Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ile250Phe Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile250Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile276Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ile276Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile286Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile288Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ile344Met Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile344Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ile364Thr Uncertain significance Multiple submitters
CHEK2-related cancer predisposition
CHEK2 p.Ile366Met Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile366Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ile416Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ile419Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ile419Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Leu191Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Leu204Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Leu301Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Leu303Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Leu303Trp Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Leu462Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Leu462Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Leu498Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Leu96Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Leu99Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Lys131Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Lys141Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Lys141Thr Uncertain significance Multiple submitters
CHEK2-related cancer predisposition
CHEK2 p.Lys142Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Lys177Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Lys197Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Lys224Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Lys235Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Lys312Glu Uncertain significance Multiple submitters
prostate cancer, hereditary
CHEK2 p.Lys464Asn Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Lys520Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Lys534Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Met222Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Met304Ile Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Met331Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Met381Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Met381Val Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Phe103Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe103Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe115Cys Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Phe115Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe115Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe125Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe144Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe202Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe238Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe328Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe447Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Phe447Leu Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Phe495Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro128Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Pro152Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro152Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro182Arg Uncertain significance Multiple submitters
CHEK2-related cancer predisposition
CHEK2 p.Pro182Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro182Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro213His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro283His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro283Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro350Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro425Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro449Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro80His Uncertain significance Multiple submitters
hereditary nonpolyposis colon cancer
CHEK2 p.Pro85His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro90Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro92Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro92Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Pro92Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ser12Cys Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ser155Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ser187Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CHEK2 p.Ser187Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
CHEK2 p.Ser192Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome

All CHEK2 variants

Pathogenic 454

Showing the top 300 by review status; the full set is in the sitemap.

c.909-?_1095+?del Multiple submitters Breast and colorectal cancer, susceptibility to
p.Ala230fs Multiple submitters hereditary breast carcinoma
p.Ala322fs Multiple submitters hereditary neoplastic syndrome
p.Ala407_Val408insTer Multiple submitters hereditary neoplastic syndrome
p.Ala453fs Multiple submitters hereditary neoplastic syndrome
p.Ala480_Leu481insTer Multiple submitters hereditary neoplastic syndrome
p.Ala98fs Multiple submitters hereditary neoplastic syndrome
p.Arg117fs Multiple submitters hereditary breast carcinoma
p.Arg145fs Multiple submitters hereditary breast carcinoma
p.Arg254fs Multiple submitters hereditary breast carcinoma
p.Arg3fs Multiple submitters hereditary neoplastic syndrome
p.Asn171fs Multiple submitters hereditary neoplastic syndrome
p.Asn185fs Multiple submitters hereditary neoplastic syndrome
p.Asn186fs Multiple submitters hereditary neoplastic syndrome
p.Asn341fs Multiple submitters hereditary neoplastic syndrome
p.Asp118fs Multiple submitters hereditary neoplastic syndrome
p.Asp162fs Multiple submitters hereditary neoplastic syndrome
p.Asp208fs Multiple submitters hereditary neoplastic syndrome
p.Asp218fs Multiple submitters hereditary breast carcinoma
p.Asp293fs Multiple submitters hereditary breast carcinoma
p.Asp293Ter Multiple submitters hereditary neoplastic syndrome
p.Asp347_Leu348insTer Multiple submitters hereditary neoplastic syndrome
p.Asp6fs Multiple submitters hereditary breast carcinoma
p.Cys124fs Multiple submitters hereditary neoplastic syndrome
p.Cys410Ter Multiple submitters hereditary breast carcinoma
p.Cys420Ter Multiple submitters hereditary neoplastic syndrome
p.Gln27Ter Multiple submitters hereditary breast carcinoma
p.Gln358Ter Multiple submitters hereditary neoplastic syndrome
p.Gln36fs Multiple submitters CHEK2-related cancer predisposition
p.Gln433fs Multiple submitters hereditary breast carcinoma
p.Gln433Ter Multiple submitters hereditary breast carcinoma
p.Gln439fs Multiple submitters hereditary breast carcinoma
p.Gln439Ter Multiple submitters hereditary neoplastic syndrome
p.Gln487Ter Multiple submitters hereditary neoplastic syndrome
p.Gln78fs Multiple submitters hereditary breast carcinoma
p.Gln83Ter Multiple submitters hereditary neoplastic syndrome
p.Glu107_Cys108insTer Multiple submitters hereditary breast carcinoma
p.Glu107fs Multiple submitters hereditary neoplastic syndrome
p.Glu107Ter Multiple submitters hereditary breast carcinoma
p.Glu122fs Multiple submitters hereditary neoplastic syndrome
p.Glu239Ter Multiple submitters colorectal cancer
p.Glu263fs Multiple submitters hereditary neoplastic syndrome
p.Glu263Ter Multiple submitters hereditary breast carcinoma
p.Glu273Ter Multiple submitters hereditary neoplastic syndrome
p.Glu275Ter Multiple submitters hereditary breast carcinoma
p.Glu302Ter Multiple submitters hereditary breast carcinoma
p.Glu308fs Multiple submitters hereditary neoplastic syndrome
p.Glu340Ter Multiple submitters hereditary breast carcinoma
p.Glu359Ter Multiple submitters hereditary breast carcinoma
p.Glu360fs Multiple submitters hereditary neoplastic syndrome
p.Glu394Ter Multiple submitters hereditary breast carcinoma
p.Glu450Ter Multiple submitters hereditary breast carcinoma
p.Glu457Ter Multiple submitters hereditary neoplastic syndrome
p.Glu478Ter Multiple submitters hereditary breast carcinoma
p.Glu479fs Multiple submitters hereditary neoplastic syndrome
p.Glu479Ter Multiple submitters hereditary neoplastic syndrome
p.Glu489Ter Multiple submitters hereditary neoplastic syndrome
p.Glu70Ter Multiple submitters hereditary neoplastic syndrome
p.Glu79fs Multiple submitters hereditary neoplastic syndrome
p.Glu79Ter Multiple submitters hereditary neoplastic syndrome
p.Glu8Ter Multiple submitters hereditary neoplastic syndrome
p.Gly102Ter Multiple submitters hereditary breast carcinoma
p.Gly176fs Multiple submitters hereditary neoplastic syndrome
p.Gly307Ter Multiple submitters hereditary breast carcinoma
p.Gly376fs Multiple submitters hereditary neoplastic syndrome
p.Gly400fs Multiple submitters hereditary breast carcinoma
p.Gly414Ter Multiple submitters hereditary neoplastic syndrome
p.Gly443Ter Multiple submitters hereditary breast carcinoma
p.His143fs Multiple submitters hereditary neoplastic syndrome
p.His22fs Multiple submitters hereditary neoplastic syndrome
p.His371fs Multiple submitters hereditary breast carcinoma
p.His430_Arg431delinsGlnTer Multiple submitters hereditary neoplastic syndrome
p.His54fs Multiple submitters hereditary neoplastic syndrome
p.Ile251fs Multiple submitters hereditary neoplastic syndrome
p.Ile258fs Multiple submitters hereditary breast carcinoma
p.Ile276fs Multiple submitters hereditary breast carcinoma
p.Ile416fs Multiple submitters hereditary breast carcinoma
p.Ile419fs Multiple submitters hereditary neoplastic syndrome
p.Leu183Ter Multiple submitters hereditary neoplastic syndrome
p.Leu193fs Multiple submitters hereditary neoplastic syndrome
p.Leu268fs Multiple submitters hereditary neoplastic syndrome
p.Leu303Ter Multiple submitters hereditary neoplastic syndrome
p.Leu332fs Multiple submitters hereditary neoplastic syndrome
p.Leu354Ter Multiple submitters hereditary breast carcinoma
p.Leu355fs Multiple submitters hereditary breast carcinoma
p.Leu380fs Multiple submitters hereditary neoplastic syndrome
p.Leu391fs Multiple submitters hereditary breast carcinoma
p.Leu413Ter Multiple submitters hereditary neoplastic syndrome
p.Leu417fs Multiple submitters hereditary breast carcinoma
p.Leu436fs Multiple submitters hereditary neoplastic syndrome
p.Leu467fs Multiple submitters hereditary breast carcinoma
p.Leu481Ter Multiple submitters hereditary neoplastic syndrome
p.Leu60fs Multiple submitters hereditary neoplastic syndrome
p.Leu99fs Multiple submitters hereditary neoplastic syndrome
p.Lys131Ter Multiple submitters hereditary neoplastic syndrome
p.Lys135fs Multiple submitters hereditary neoplastic syndrome
p.Lys177Ter Multiple submitters hereditary neoplastic syndrome
p.Lys179fs Multiple submitters hereditary breast carcinoma
p.Lys244_Lys245insTer Multiple submitters hereditary neoplastic syndrome
p.Lys244Ter Multiple submitters hereditary neoplastic syndrome
p.Lys245Ter Multiple submitters hereditary breast carcinoma
p.Lys255Ter Multiple submitters hereditary neoplastic syndrome
p.Lys279Ter Multiple submitters hereditary breast carcinoma
p.Lys444_Tyr445insTer Multiple submitters hereditary neoplastic syndrome
p.Lys444fs Multiple submitters hereditary breast carcinoma
p.Lys458fs Multiple submitters Inherited breast cancer and ovarian cancer
p.Lys465Ter Multiple submitters hereditary neoplastic syndrome
p.Lys472fs Multiple submitters hereditary neoplastic syndrome
p.Phe169fs Multiple submitters prostate cancer, hereditary
p.Phe199fs Multiple submitters hereditary breast carcinoma
p.Phe201_Phe202insTer Multiple submitters hereditary breast carcinoma
p.Phe291_Phe292insTer Multiple submitters hereditary neoplastic syndrome
p.Phe292fs Multiple submitters hereditary neoplastic syndrome
p.Phe427fs Multiple submitters hereditary neoplastic syndrome
p.Phe447fs Multiple submitters hereditary breast carcinoma
p.Pro182_Leu183insTer Multiple submitters hereditary neoplastic syndrome
p.Pro449fs Multiple submitters hereditary neoplastic syndrome
p.Pro484fs Multiple submitters hereditary neoplastic syndrome
p.Pro75fs Multiple submitters hereditary neoplastic syndrome
p.Pro85fs Multiple submitters hereditary breast carcinoma
p.Pro90fs Multiple submitters hereditary neoplastic syndrome
p.Ser19Ter Multiple submitters hereditary breast carcinoma
p.Ser210Ter Multiple submitters hereditary neoplastic syndrome
p.Ser223Ter Multiple submitters hereditary neoplastic syndrome
p.Ser260fs Multiple submitters hereditary neoplastic syndrome
p.Ser260Ter Multiple submitters hereditary breast carcinoma
p.Ser33Ter Multiple submitters hereditary neoplastic syndrome
p.Ser398fs Multiple submitters hereditary neoplastic syndrome
p.Ser412delinsValTer Multiple submitters hereditary neoplastic syndrome
p.Ser435_Leu436insTer Multiple submitters hereditary neoplastic syndrome
p.Thr133_Asp134insTer Multiple submitters hereditary breast carcinoma
p.Thr138_Tyr139insTer Multiple submitters hereditary neoplastic syndrome
p.Thr172fs Multiple submitters hereditary neoplastic syndrome
p.Thr242fs Multiple submitters CHEK2-related cancer predisposition
p.Thr367fs Multiple submitters CHEK2-related disorder
p.Thr378fs Multiple submitters hereditary breast carcinoma
p.Thr432fs Multiple submitters hereditary breast carcinoma
p.Thr45fs Multiple submitters hereditary breast carcinoma
p.Thr59fs Multiple submitters hereditary neoplastic syndrome
p.Thr65fs Multiple submitters hereditary breast carcinoma
p.Trp452Ter Multiple submitters hereditary neoplastic syndrome
p.Trp93fs Multiple submitters Predisposition to cancer
p.Trp97Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr113Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr136Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr139Ter Multiple submitters hereditary breast carcinoma
p.Tyr156fs Multiple submitters hereditary neoplastic syndrome
p.Tyr156Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr159_Ile160insTer Multiple submitters hereditary neoplastic syndrome
p.Tyr220Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr298fs Multiple submitters hereditary breast carcinoma
p.Tyr404Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr424fs Multiple submitters hereditary neoplastic syndrome
p.Tyr424Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr445Ter Multiple submitters hereditary breast carcinoma
p.Val399fs Multiple submitters hereditary breast carcinoma
c.1009-1264C>G Single submitter hereditary breast carcinoma
c.1461+2301G>T Single submitter hereditary breast carcinoma
c.319+3A>C Single submitter hereditary neoplastic syndrome
c.320-2A>C Single submitter hereditary breast carcinoma
c.320-3970_454del Single submitter hereditary breast carcinoma
c.320-3970_455del Single submitter hereditary breast carcinoma
c.444+119del Single submitter hereditary breast carcinoma
c.592+307_683+3095del Single submitter
c.606_607insSVAelement Single submitter hereditary breast carcinoma
c.684-1582_846+1965dup Single submitter hereditary neoplastic syndrome
c.793-15T>G Single submitter hereditary breast carcinoma
c.(908+1_909-1 Single submitter CHEK2-related cancer predisposition
c.908+1493_1095+388del Single submitter Predisposition to cancer
c.908+1540_1095+330del Single submitter exocrine pancreatic carcinoma
c.(908+21_909-21 Single submitter CHEK2-related cancer predisposition
c.908+715_1095+299del Single submitter
c.909-49_1095+51del Single submitter hereditary breast carcinoma
c.909delG Single submitter hereditary breast carcinoma
c.910_1095+1del Single submitter CHEK2-related cancer predisposition
c.-72_1632del Single submitter
p.Ala158fs Single submitter hereditary breast carcinoma
p.Ala190delinsAspLeuTer Single submitter hereditary neoplastic syndrome
p.Ala190Ter Single submitter hereditary breast carcinoma
p.Ala215fs Single submitter hereditary breast carcinoma
p.Ala237fs Single submitter hereditary breast carcinoma
p.Ala247_Ile248insTer Single submitter hereditary neoplastic syndrome
p.Ala247fs Single submitter hereditary breast carcinoma
p.Ala257fs Single submitter hereditary breast carcinoma
p.Ala261fs Single submitter hereditary breast carcinoma
p.Ala459fs Single submitter hereditary breast carcinoma
p.Ala473fs Single submitter hereditary neoplastic syndrome
p.Ala91fs Single submitter hereditary neoplastic syndrome
p.Ala94fs Single submitter hereditary neoplastic syndrome
p.Arg132fs Single submitter hereditary breast carcinoma
p.Arg132Ter Single submitter hereditary neoplastic syndrome
p.Arg137fs Single submitter hereditary breast carcinoma
p.Arg148delinsIleAlaLeuMetAsnHisCysTer Single submitter hereditary neoplastic syndrome
p.Arg180fs Single submitter hereditary breast carcinoma
p.Arg195Ter Single submitter hereditary breast carcinoma
p.Arg217fs Single submitter hereditary breast carcinoma
p.Arg240fs Single submitter hereditary breast carcinoma
p.Arg262fs Single submitter hereditary breast carcinoma
p.Arg318fs Single submitter hereditary neoplastic syndrome
p.Arg346fs Single submitter hereditary breast carcinoma
p.Arg406delinsLeuTer Single submitter hereditary breast carcinoma
p.Arg474fs Single submitter hereditary breast carcinoma
p.Arg482fs Single submitter hereditary breast carcinoma
p.Arg482Ter Single submitter hereditary breast carcinoma
p.Arg493Ter Single submitter hereditary breast carcinoma
p.Asn112fs Single submitter hereditary breast carcinoma
p.Asn154fs Single submitter hereditary breast carcinoma
p.Asn166fs Single submitter hereditary breast carcinoma
p.Asn196fs Single submitter hereditary breast carcinoma
p.Asn269fs Single submitter hereditary breast carcinoma
p.Asn290fs Single submitter hereditary neoplastic syndrome
p.Asn316fs Single submitter hereditary breast carcinoma
p.Asn352fs Single submitter hereditary breast carcinoma
p.Asp134fs Single submitter hereditary breast carcinoma
p.Asp203fs Single submitter hereditary breast carcinoma
p.Asp207fs Single submitter hereditary breast carcinoma
p.Asp265fs Single submitter hereditary neoplastic syndrome
p.Asp296fs Single submitter hereditary breast carcinoma
p.Asp347fs Single submitter hereditary breast carcinoma
p.Asp438fs Single submitter hereditary breast carcinoma
p.Asp490fs Single submitter hereditary breast carcinoma
p.Asp82fs Single submitter hereditary neoplastic syndrome
p.Cys108Ter Single submitter hereditary breast carcinoma
p.Cys121_Glu122delinsTer Single submitter hereditary breast carcinoma
p.Cys121fs Single submitter hereditary breast carcinoma
p.Cys121Ter Single submitter hereditary breast carcinoma
p.Cys243Ter Single submitter hereditary breast carcinoma
p.Cys284fs Single submitter hereditary breast carcinoma
p.Cys324fs Single submitter hereditary breast carcinoma
p.Cys362fs Single submitter
p.Cys385Ter Single submitter hereditary breast carcinoma
p.Cys410fs Single submitter hereditary neoplastic syndrome
p.Cys420_Leu421insTer Single submitter hereditary neoplastic syndrome
p.Cys420fs Single submitter hereditary breast carcinoma
p.Gln100fs Single submitter hereditary breast carcinoma
p.Gln11fs Single submitter hereditary breast carcinoma
p.Gln209fs Single submitter hereditary breast carcinoma
p.Gln20fs Single submitter hereditary breast carcinoma
p.Gln29fs Single submitter hereditary neoplastic syndrome
p.Gln330fs Single submitter hereditary breast carcinoma
p.Gln34fs Single submitter hereditary breast carcinoma
p.Gln487fs Single submitter hereditary breast carcinoma
p.Gln496fs Single submitter hereditary breast carcinoma
p.Gln51fs Single submitter hereditary breast carcinoma
p.Gln69fs Single submitter hereditary breast carcinoma
p.Glu107delinsCysGlnSerTer Single submitter hereditary breast carcinoma
p.Glu161fs Single submitter hereditary neoplastic syndrome
p.Glu173fs Single submitter hereditary breast carcinoma
p.Glu173Ter Single submitter hereditary neoplastic syndrome
p.Glu188fs Single submitter hereditary breast carcinoma
p.Glu219fs Single submitter hereditary neoplastic syndrome
p.Glu233fs Single submitter hereditary breast carcinoma
p.Glu295Ter Single submitter hereditary neoplastic syndrome
p.Glu302_Leu303insTer Single submitter hereditary breast carcinoma
p.Glu321fs Single submitter CHEK2-related cancer predisposition
p.Glu340fs Single submitter hereditary breast carcinoma
p.Glu351fs Single submitter hereditary breast carcinoma
p.Glu359fs Single submitter hereditary breast carcinoma
p.Glu377fs Single submitter hereditary breast carcinoma
p.Glu429fs Single submitter hereditary breast carcinoma
p.Glu450fs Single submitter hereditary breast carcinoma
p.Glu454fs Single submitter hereditary breast carcinoma
p.Glu457fs Single submitter hereditary neoplastic syndrome
p.Glu501Ter Single submitter hereditary breast carcinoma
p.Glu76fs Single submitter hereditary neoplastic syndrome
p.Glu81Ter Single submitter hereditary breast carcinoma
p.Glu84fs Single submitter hereditary breast carcinoma
p.Glu84Ter Single submitter hereditary breast carcinoma
p.Glu87fs Single submitter hereditary neoplastic syndrome
p.Gly116fs Single submitter hereditary breast carcinoma
p.Gly14fs Single submitter hereditary breast carcinoma
p.Gly165fs Single submitter hereditary breast carcinoma
p.Gly178fs Single submitter hereditary breast carcinoma
p.Gly229fs Single submitter CHEK2-related cancer predisposition
p.Gly232fs Single submitter hereditary neoplastic syndrome
p.Gly259_Ser260insTer Single submitter hereditary breast carcinoma
p.Gly259fs Single submitter hereditary breast carcinoma
p.Gly370fs Single submitter hereditary breast carcinoma
p.Gly37fs Single submitter hereditary breast carcinoma
p.His163delinsGlnThrLeuThrLeuHisThrTer Single submitter hereditary breast carcinoma
p.His345fs Single submitter hereditary breast carcinoma
p.His483fs Single submitter hereditary breast carcinoma
p.Ile157fs Single submitter hereditary breast carcinoma
p.Ile160fs Single submitter hereditary breast carcinoma
p.Ile248fs Single submitter hereditary breast carcinoma
p.Ile250fs Single submitter hereditary breast carcinoma
p.Ile274fs Single submitter hereditary breast carcinoma
p.Ile276_Leu277insTer Single submitter hereditary breast carcinoma
p.Ile286fs Single submitter hereditary neoplastic syndrome
p.Ile288fs Single submitter hereditary neoplastic syndrome
p.Ile299fs Single submitter hereditary breast carcinoma
p.Ile343fs Single submitter hereditary breast carcinoma
p.Ile364fs Single submitter hereditary neoplastic syndrome
p.Ile366fs Single submitter hereditary breast carcinoma
p.Ile374fs Single submitter hereditary breast carcinoma
p.Ile38fs Single submitter hereditary breast carcinoma
p.Ile419delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer Single submitter hereditary breast carcinoma
p.Ile440fs Single submitter hereditary breast carcinoma
p.Ile448fs Single submitter hereditary breast carcinoma
p.Leu174_Val175insTer Single submitter hereditary breast carcinoma

Pathogenic/Likely pathogenic 113

c.1096-1G>A Multiple submitters hereditary neoplastic syndrome
c.1259+1G>C Multiple submitters hereditary neoplastic syndrome
c.1461+1G>A Multiple submitters hereditary neoplastic syndrome
c.1462-1G>A Multiple submitters hereditary breast carcinoma
c.1462-2A>G Multiple submitters hereditary breast carcinoma
c.1542+1G>A Multiple submitters hereditary breast carcinoma
c.1543-9_1546del Multiple submitters hereditary breast carcinoma
c.319+1G>A Multiple submitters CHEK2-related cancer predisposition
c.319+2T>A Multiple submitters CHEK2-related disorder
c.320-1G>T Multiple submitters hereditary neoplastic syndrome
c.444+1del Multiple submitters hereditary breast carcinoma
c.444+1G>A Multiple submitters CHEK2-related disorder
c.444+1G>T Multiple submitters CHEK2-related cancer predisposition
c.444+2T>C Multiple submitters hereditary breast carcinoma
c.444+2T>G Multiple submitters hereditary breast carcinoma
c.592+1G>A Multiple submitters hereditary neoplastic syndrome
c.592+3A>T Multiple submitters CHEK2-related disorder
c.593-1G>T Multiple submitters CHEK2-related disorder
c.683+1G>T Multiple submitters CHEK2-related disorder
c.684-2A>G Multiple submitters hereditary neoplastic syndrome
c.684-7_694del Multiple submitters hereditary breast carcinoma
c.792_792+1del Multiple submitters hereditary breast carcinoma
c.793-1G>A Multiple submitters hereditary breast carcinoma
c.793-1G>T Multiple submitters hereditary neoplastic syndrome
c.793-2A>G Multiple submitters hereditary breast carcinoma
c.846+1G>A Multiple submitters hereditary neoplastic syndrome
c.846+1G>C Multiple submitters CHEK2-related cancer predisposition
c.846+1G>T Multiple submitters hereditary breast carcinoma
c.846+4_846+7del Multiple submitters prostate cancer, hereditary
c.847-14_847-2del Multiple submitters hereditary breast carcinoma
c.908+1_908+8delinsTT Multiple submitters hereditary neoplastic syndrome
c.908+1G>T Multiple submitters hereditary neoplastic syndrome
c.908+2T>C Multiple submitters hereditary neoplastic syndrome
p.Arg117Gly Multiple submitters prostate cancer, hereditary
p.Arg137Ter Multiple submitters CHEK2-related disorder
p.Arg431Ter Multiple submitters hereditary breast carcinoma
p.Arg519Ter Multiple submitters prostate cancer, hereditary
p.Arg95fs Multiple submitters hereditary breast carcinoma
p.Arg95Ter Multiple submitters bone osteosarcoma
p.Asn446fs Multiple submitters hereditary neoplastic syndrome
p.Asp203Ter Multiple submitters Breast cancer, susceptibility to
p.Asp497fs Multiple submitters hereditary neoplastic syndrome
p.Cys284Ter Multiple submitters hereditary neoplastic syndrome
p.Gln100Ter Multiple submitters hereditary neoplastic syndrome
p.Gln10Ter Multiple submitters hereditary breast carcinoma
p.Gln11Ter Multiple submitters prostate cancer, hereditary
p.Gln209Ter Multiple submitters hereditary neoplastic syndrome
p.Gln20Ter Multiple submitters hereditary breast carcinoma
p.Gln29Ter Multiple submitters hereditary nonpolyposis colon cancer
p.Gln330Ter Multiple submitters CHEK2-related cancer predisposition
p.Gln336Ter Multiple submitters hereditary neoplastic syndrome
p.Gln34Ter Multiple submitters hereditary breast carcinoma
p.Gln36Ter Multiple submitters Breast and/or ovarian cancer
p.Gln496Ter Multiple submitters hereditary neoplastic syndrome
p.Gln514Ter Multiple submitters hereditary neoplastic syndrome
p.Gln51Ter Multiple submitters hereditary neoplastic syndrome
p.Gln69Ter Multiple submitters hereditary neoplastic syndrome
p.Gln78Ter Multiple submitters hereditary neoplastic syndrome
p.Gln83fs Multiple submitters CHEK2-related disorder
p.Glu219Ter Multiple submitters hereditary neoplastic syndrome
p.Glu233Ter Multiple submitters hereditary neoplastic syndrome
p.Glu273fs Multiple submitters hereditary breast carcinoma
p.Glu275fs Multiple submitters hereditary breast carcinoma
p.Glu302fs Multiple submitters hereditary breast carcinoma
p.Glu321Ter Multiple submitters hereditary neoplastic syndrome
p.Glu501fs Multiple submitters hereditary neoplastic syndrome
p.Glu502fs Multiple submitters hereditary neoplastic syndrome
p.Glu504Ter Multiple submitters hereditary breast carcinoma
p.Gly167Arg Multiple submitters Predisposition to cancer
p.Gly307fs Multiple submitters hereditary neoplastic syndrome
p.Gly342fs Multiple submitters hereditary breast carcinoma
p.Gly376Ter Multiple submitters hereditary breast carcinoma
p.Ile248delinsLysTer Multiple submitters hereditary breast carcinoma
p.Ile344fs Multiple submitters hereditary breast carcinoma
p.Leu301fs Multiple submitters CHEK2-related disorder
p.Leu301Ter Multiple submitters hereditary breast carcinoma
p.Leu309fs Multiple submitters hereditary breast carcinoma
p.Leu348Ter Multiple submitters CHEK2-related disorder
p.Leu413_Ile416delinsTer Multiple submitters hereditary neoplastic syndrome
p.Leu467Ter Multiple submitters hereditary neoplastic syndrome
p.Leu486fs Multiple submitters hereditary breast carcinoma
p.Leu499fs Multiple submitters hereditary breast carcinoma
p.Lys141fs Multiple submitters hereditary neoplastic syndrome
p.Lys253Ter Multiple submitters CHEK2-related cancer predisposition
p.Lys279fs Multiple submitters hereditary breast carcinoma
p.Lys287fs Multiple submitters hereditary neoplastic syndrome
p.Lys289Ter Multiple submitters hereditary breast carcinoma
p.Met381fs Multiple submitters hereditary neoplastic syndrome
p.Phe202fs Multiple submitters hereditary breast carcinoma
p.Phe418fs Multiple submitters hereditary neoplastic syndrome
p.Pro350fs Multiple submitters hereditary breast carcinoma
p.Ser155fs Multiple submitters hereditary breast carcinoma
p.Ser210fs Multiple submitters CHEK2-related disorder
p.Ser412_Leu413insTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser456fs Multiple submitters hereditary breast carcinoma
p.Ser456Ter Multiple submitters hereditary neoplastic syndrome
p.Ser5fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser61fs Multiple submitters hereditary neoplastic syndrome
p.Ser73_Ile74insTer Multiple submitters CHEK2-related disorder
p.Thr389fs Multiple submitters hereditary neoplastic syndrome
p.Thr401fs Multiple submitters hereditary breast carcinoma
p.Trp114Ter Multiple submitters breast carcinoma
p.Trp411Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Trp485fs Multiple submitters hereditary breast carcinoma
p.Trp485Ter Multiple submitters hereditary neoplastic syndrome
p.Trp93Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr337Ter Multiple submitters CHEK2-related disorder
p.Tyr390Ser Multiple submitters CHEK2-related disorder
p.Tyr390Ter Multiple submitters hereditary nonpolyposis colon cancer
p.Tyr72Ter Multiple submitters Predisposition to cancer
p.Val198fs Multiple submitters childhood neoplasm
p.Val206fs Multiple submitters hereditary neoplastic syndrome
p.Val313fs Multiple submitters hereditary breast carcinoma

Likely pathogenic 210

c.1008+1G>A Multiple submitters hereditary breast carcinoma
c.1008+1G>T Multiple submitters hereditary breast carcinoma
c.1008+2T>A Multiple submitters hereditary neoplastic syndrome
c.1008+2T>G Multiple submitters CHEK2-related cancer predisposition
c.1009-118_1009-87delinsC Multiple submitters hereditary breast ovarian cancer syndrome
c.1009-1G>A Multiple submitters hereditary breast carcinoma
c.1009-2A>C Multiple submitters hereditary neoplastic syndrome
c.1009-2A>G Multiple submitters hereditary breast carcinoma
c.1095+1G>A Multiple submitters hereditary breast carcinoma
c.1095+1G>C Multiple submitters hereditary breast carcinoma
c.1095+1G>T Multiple submitters hereditary neoplastic syndrome
c.1095+2T>G Multiple submitters hereditary breast carcinoma
c.1096-1G>C Multiple submitters hereditary breast carcinoma
c.1096-1G>T Multiple submitters hereditary neoplastic syndrome
c.1096-3_1098del Multiple submitters hereditary breast carcinoma
c.1259+1G>A Multiple submitters hereditary neoplastic syndrome
c.1259+1G>T Multiple submitters hereditary neoplastic syndrome
c.1375+1_1375+2del Multiple submitters hereditary neoplastic syndrome
c.1375+1del Multiple submitters hereditary neoplastic syndrome
c.1375+1G>A Multiple submitters hereditary neoplastic syndrome
c.1375+1G>C Multiple submitters hereditary neoplastic syndrome
c.1375+1G>T Multiple submitters hereditary breast carcinoma
c.1375+2T>A Multiple submitters hereditary neoplastic syndrome
c.1375+2T>C Multiple submitters hereditary breast carcinoma
c.1376-1G>A Multiple submitters hereditary neoplastic syndrome
c.1376-1G>C Multiple submitters hereditary neoplastic syndrome
c.1376-2A>G Multiple submitters hereditary neoplastic syndrome
c.1461+1del Multiple submitters CHEK2-related cancer predisposition
c.1461+1G>T Multiple submitters hereditary breast carcinoma
c.1461+2T>C Multiple submitters hereditary neoplastic syndrome
c.1462-2del Multiple submitters hereditary breast carcinoma
c.1543-11_1543-2del Multiple submitters hereditary neoplastic syndrome
c.1543-1G>A Multiple submitters hereditary neoplastic syndrome
c.1543-2A>C Multiple submitters hereditary breast carcinoma
c.319+1del Multiple submitters hereditary neoplastic syndrome
c.319+1G>C Multiple submitters hereditary breast carcinoma
c.319+1G>T Multiple submitters hereditary neoplastic syndrome
c.319+2T>C Multiple submitters hereditary breast carcinoma
c.320-1G>C Multiple submitters hereditary neoplastic syndrome
c.320-2A>T Multiple submitters hereditary breast carcinoma
c.444+1G>C Multiple submitters hereditary neoplastic syndrome
c.445-1G>A Multiple submitters hereditary breast carcinoma
c.445-1G>T Multiple submitters hereditary breast carcinoma
c.445-2A>G Multiple submitters hereditary neoplastic syndrome
c.445-2A>T Multiple submitters hereditary breast carcinoma
c.445-8_446del Multiple submitters hereditary neoplastic syndrome
c.592+2T>A Multiple submitters hereditary breast carcinoma
c.592+2T>C Multiple submitters hereditary breast carcinoma
c.592+2T>G Multiple submitters hereditary neoplastic syndrome
c.593-1G>A Multiple submitters hereditary neoplastic syndrome
c.593-2A>C Multiple submitters hereditary breast carcinoma
c.681_683+1del Multiple submitters hereditary breast carcinoma
c.683+1G>A Multiple submitters hereditary neoplastic syndrome
c.683+1G>C Multiple submitters hereditary breast carcinoma
c.683+2T>A Multiple submitters hereditary breast carcinoma
c.683+2T>G Multiple submitters hereditary neoplastic syndrome
c.684-1G>A Multiple submitters hereditary neoplastic syndrome
c.684-1G>C Multiple submitters hereditary neoplastic syndrome
c.684-2A>T Multiple submitters hereditary breast carcinoma
c.684-3_684-2del Multiple submitters hereditary neoplastic syndrome
c.792+1G>A Multiple submitters hereditary neoplastic syndrome
c.792+1G>C Multiple submitters hereditary neoplastic syndrome
c.792+2T>A Multiple submitters hereditary breast carcinoma
c.792+2T>C Multiple submitters hereditary neoplastic syndrome
c.792+2T>G Multiple submitters hereditary neoplastic syndrome
c.846+2T>A Multiple submitters hereditary breast carcinoma
c.846+2T>C Multiple submitters hereditary neoplastic syndrome
c.847-14_847-2delinsGG Multiple submitters hereditary breast carcinoma
c.847-1G>A Multiple submitters hereditary neoplastic syndrome
c.847-1G>T Multiple submitters hereditary breast carcinoma
c.847-2_857del Multiple submitters hereditary breast ovarian cancer syndrome
c.847-2A>C Multiple submitters hereditary breast carcinoma
c.847-2A>G Multiple submitters hereditary breast carcinoma
c.908+1_908+13delinsTTTAAAA Multiple submitters hereditary neoplastic syndrome
c.908+1G>A Multiple submitters hereditary neoplastic syndrome
c.908+1G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.908+2T>A Multiple submitters hereditary breast carcinoma
c.908+2T>G Multiple submitters hereditary neoplastic syndrome
c.909-1G>A Multiple submitters hereditary breast carcinoma
c.909-1G>C Multiple submitters hereditary breast carcinoma
c.909-1G>T Multiple submitters hereditary breast carcinoma
c.909-2A>G Multiple submitters hereditary neoplastic syndrome
p.Arg145Trp Multiple submitters CHEK2-related disorder
p.Leu236Pro Multiple submitters Predisposition to cancer
p.Ser516fs Multiple submitters hereditary neoplastic syndrome
p.Val314fs Multiple submitters hereditary breast carcinoma
c.(1008+1_1009-1 Single submitter CHEK2-related cancer predisposition
c.1008+1G>C Single submitter hereditary breast carcinoma
c.1009-118_1009-89del Single submitter CHEK2-related cancer predisposition
c.1009-1del Single submitter hereditary breast carcinoma
c.1009-1G>C Single submitter hereditary neoplastic syndrome
c.1009-1G>T Single submitter hereditary breast carcinoma
c.1009-2_1011del Single submitter hereditary breast carcinoma
c.1009-2A>T Single submitter hereditary breast carcinoma
c.1009-852_1096-16dup Single submitter
c.1009-87del Single submitter CHEK2-related cancer predisposition
c.1094_1095+4del Single submitter hereditary breast carcinoma
c.1095+1del Single submitter
c.1095+1dup Single submitter hereditary breast carcinoma
c.1095+2T>A Single submitter hereditary breast carcinoma
c.1095+2T>C Single submitter hereditary breast carcinoma
c.1096-1_1096delinsCG Single submitter hereditary breast carcinoma
c.1096-2A>C Single submitter hereditary breast carcinoma
c.1096-3_1096-1delinsAA Single submitter hereditary breast carcinoma
c.1245_1259+2del Single submitter hereditary neoplastic syndrome
c.1259+2del Single submitter hereditary breast carcinoma
c.1259+2T>A Single submitter hereditary breast carcinoma
c.1260-24_1263del Single submitter hereditary breast carcinoma
c.1375+1delinsTTTCA Single submitter hereditary breast carcinoma
c.1375+2_1375+15del Single submitter hereditary breast carcinoma
c.1375+2T>G Single submitter hereditary breast carcinoma
c.1376-21_1382del Single submitter hereditary neoplastic syndrome
c.1376-2A>C Single submitter hereditary neoplastic syndrome
c.1408_1461+209del Single submitter hereditary neoplastic syndrome
c.1461+1G>C Single submitter hereditary breast carcinoma
c.1461+2del Single submitter hereditary breast carcinoma
c.1461+2T>A Single submitter hereditary neoplastic syndrome
c.1462-10_1472del Single submitter hereditary neoplastic syndrome
c.1462-1G>T Single submitter hereditary breast carcinoma
c.1462-2A>C Single submitter hereditary breast carcinoma
c.1543-1G>C Single submitter hereditary breast carcinoma
c.1543-1G>T Single submitter hereditary breast carcinoma
c.1543-2A>G Single submitter hereditary breast carcinoma
c.1543-2A>T Single submitter hereditary breast carcinoma
c.1543-44_1581del Single submitter hereditary breast carcinoma
c.(319+1_320-1 Single submitter hereditary neoplastic syndrome
c.319+2T>G Single submitter hereditary breast carcinoma
c.320_444del Single submitter hereditary neoplastic syndrome
c.320-10_320del Single submitter hereditary neoplastic syndrome
c.320-10_375del Single submitter hereditary neoplastic syndrome
c.320-1801_592+317dup Single submitter hereditary neoplastic syndrome
c.320-1843_592+340dup Single submitter hereditary neoplastic syndrome
c.320-1G>A Single submitter hereditary breast carcinoma
c.320-2048_593-1211dup Single submitter hereditary neoplastic syndrome
c.320-2A>G Single submitter hereditary breast carcinoma
c.320-2del Single submitter hereditary breast carcinoma
c.320-3_320del Single submitter hereditary breast carcinoma
c.320-?_592+?dup273 Single submitter hereditary breast carcinoma
c.320_*1del Single submitter hereditary neoplastic syndrome
c.424_444+35del Single submitter hereditary breast carcinoma
c.429_444+4del Single submitter hereditary breast carcinoma
c.444_444+1del Single submitter hereditary breast carcinoma
c.444+2T>A Single submitter hereditary neoplastic syndrome
c.445-1G>C Single submitter hereditary neoplastic syndrome
c.469_592+808del Single submitter hereditary breast carcinoma
c.471_592+809del Single submitter hereditary breast carcinoma
c.592+1G>C Single submitter hereditary neoplastic syndrome
c.592+1G>T Single submitter hereditary breast carcinoma
c.684_694del Single submitter hereditary breast ovarian cancer syndrome
c.684-1del Single submitter hereditary breast carcinoma
c.684-1dup Single submitter hereditary breast carcinoma
c.684-1G>T Single submitter hereditary neoplastic syndrome
c.684-2A>C Single submitter hereditary breast carcinoma
c.684-4_684-2del Single submitter hereditary neoplastic syndrome
c.684-430A>T Single submitter hereditary neoplastic syndrome
c.684-5_684-2delinsC Single submitter hereditary breast carcinoma
c.684-8_684del Single submitter hereditary neoplastic syndrome
c.785_792+15del Single submitter hereditary neoplastic syndrome
c.792+2_792+17del Single submitter hereditary breast carcinoma
c.844_846+16delinsTATTA Single submitter hereditary breast carcinoma
c.846+1_846+2del Single submitter hereditary neoplastic syndrome
c.846+1_846+2delinsC Single submitter hereditary breast carcinoma
c.(846+1_847-1 Single submitter hereditary neoplastic syndrome
c.846+2T>G Single submitter hereditary breast carcinoma
c.847-1_893del Single submitter hereditary breast carcinoma
c.847-12_847-2del Single submitter hereditary breast carcinoma
c.847-12_847-2delinsTTG Single submitter hereditary breast carcinoma
c.847-44_875del Single submitter hereditary neoplastic syndrome
c.891_908+3del Single submitter hereditary breast carcinoma
c.903_908+26del Single submitter hereditary breast carcinoma
c.966_967insSVA Single submitter hereditary neoplastic syndrome
c.-6-2A>G Single submitter hereditary neoplastic syndrome
c.-6-45_36del Single submitter hereditary breast carcinoma
c.-6-5_6del Single submitter hereditary breast carcinoma
p.Ala507fs Single submitter bone osteosarcoma
p.Asn184_Asn185insLeuTer Single submitter
p.Asn184fs Single submitter hereditary breast carcinoma
p.Asn281fs Single submitter hereditary breast carcinoma
p.Asp368His Single submitter hereditary breast carcinoma
p.Cys124Ter Single submitter hereditary breast carcinoma
p.Cys385fs Single submitter
p.Gln336fs Single submitter bone osteosarcoma
p.Gln510fs Single submitter hereditary breast carcinoma
p.Gln514fs Single submitter hereditary breast carcinoma
p.Glu122_Tyr123del Single submitter hereditary breast carcinoma
p.Glu501_Glu502delinsTer Single submitter hereditary neoplastic syndrome
p.Glu70fs Single submitter
p.Gly151fs Single submitter hereditary breast carcinoma
p.Gly414fs Single submitter hereditary breast carcinoma
p.Gly423fs Single submitter Breast and/or ovarian cancer
p.Leu498fs Single submitter hereditary breast carcinoma
p.Leu508fs Single submitter hereditary breast carcinoma
p.Lys312Ter Single submitter hereditary neoplastic syndrome
p.Met1fs Single submitter hereditary breast carcinoma
p.Met491fs Single submitter hereditary breast carcinoma
p.Phe495fs Single submitter hereditary breast carcinoma
p.Pro509fs Single submitter hereditary breast carcinoma
p.Pro515_Ser516insTer Single submitter hereditary breast carcinoma
p.Pro515fs Single submitter hereditary breast carcinoma
p.Ser31fs Single submitter hereditary breast ovarian cancer syndrome
p.Ser500fs Single submitter hereditary breast carcinoma
p.Thr476fs Single submitter
p.Thr506fs Single submitter hereditary neoplastic syndrome
p.Val511_Leu512insTer Single submitter hereditary breast carcinoma
p.Val511fs Single submitter hereditary neoplastic syndrome
p.Arg493fs No assertion criteria breast cancer
p.Gly102fs No assertion criteria hereditary breast carcinoma
p.Ile221fs No assertion criteria breast carcinoma
p.Val234fs No assertion criteria breast carcinoma
p.Val397fs No assertion criteria Lynch syndrome 1

Conflicting classifications of pathogenicity 267

c.1009-14G>C Single submitter hereditary neoplastic syndrome
c.1009-4G>A Single submitter hereditary breast carcinoma
c.1009-5T>C Single submitter hereditary breast carcinoma
c.1009-5T>G Single submitter hereditary neoplastic syndrome
c.1009-7T>G Single submitter hereditary neoplastic syndrome
c.1095+13C>T Single submitter hereditary breast carcinoma
c.1095+2dup Single submitter hereditary neoplastic syndrome ⚠
c.1096-10T>C Single submitter hereditary breast carcinoma
c.1096-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.1096-3T>C Single submitter hereditary neoplastic syndrome
c.1096-4T>C Single submitter hereditary neoplastic syndrome
c.1259+2T>C Single submitter hereditary neoplastic syndrome ⚠
c.1259+8A>G Single submitter hereditary breast carcinoma
c.1260-10C>G Single submitter Breast and/or ovarian cancer
c.1260-15T>G Single submitter hereditary breast carcinoma
c.1260-1G>A Single submitter hereditary neoplastic syndrome ⚠
c.1260-20CT[3] Single submitter hereditary neoplastic syndrome
c.1260-4T>G Single submitter hereditary breast carcinoma
c.1260-6del Single submitter hereditary neoplastic syndrome
c.1260-8A>G Single submitter hereditary neoplastic syndrome
c.1375+10T>C Single submitter hereditary breast carcinoma
c.1376-12T>C Single submitter hereditary neoplastic syndrome
c.1376-27C>G Single submitter hereditary neoplastic syndrome
c.1376-3T>C Single submitter hereditary breast carcinoma
c.1376-4T>G Single submitter hereditary breast carcinoma
c.1461+12A>G Single submitter CHEK2-related cancer predisposition
c.1461+3G>A Single submitter hereditary neoplastic syndrome
c.1461+4G>A Single submitter hereditary neoplastic syndrome
c.1461+5G>A Single submitter hereditary neoplastic syndrome
c.1461+5G>T Single submitter hereditary neoplastic syndrome
c.1462-3C>T Single submitter hereditary breast carcinoma
c.1462-5C>G Single submitter hereditary breast carcinoma
c.1462-5C>T Single submitter hereditary neoplastic syndrome
c.1462-7C>G Single submitter bone osteosarcoma
c.1542+3A>G Single submitter hereditary neoplastic syndrome
c.319+3966G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.319+7C>T Single submitter hereditary neoplastic syndrome
c.320-3C>T Single submitter hereditary neoplastic syndrome
c.320-5T>A Single submitter Hereditary cancer
c.320-5T>C Single submitter hereditary breast carcinoma
c.444+3A>G Single submitter hereditary neoplastic syndrome
c.444+4G>A Single submitter hereditary neoplastic syndrome
c.444+6T>C Single submitter hereditary neoplastic syndrome
c.445-11C>T Single submitter hereditary neoplastic syndrome
c.445-15T>A Single submitter hereditary neoplastic syndrome
c.445-4T>A Single submitter hereditary breast carcinoma
c.445-4T>C Single submitter hereditary neoplastic syndrome
c.445-5T>C Single submitter hereditary neoplastic syndrome
c.445-5T>G Single submitter hereditary neoplastic syndrome
c.445-9C>G Single submitter hereditary neoplastic syndrome
c.592+9A>G Single submitter hereditary neoplastic syndrome
c.593-11_593-7del Single submitter hereditary nonpolyposis colon cancer
c.593-14C>G Single submitter hereditary neoplastic syndrome
c.593-15T>A Single submitter hereditary neoplastic syndrome
c.593-1G>C Single submitter hereditary neoplastic syndrome ⚠
c.593-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.593-2A>T Single submitter hereditary neoplastic syndrome ⚠
c.593-6_593-3del Single submitter hereditary neoplastic syndrome
c.683+2T>C Single submitter hereditary breast carcinoma ⚠
c.683+9T>C Single submitter hereditary breast carcinoma
c.684-3T>C Single submitter hereditary neoplastic syndrome
c.684-4C>G Single submitter hereditary neoplastic syndrome
c.684-7C>T Single submitter hereditary neoplastic syndrome
c.684-8C>T Single submitter hereditary neoplastic syndrome
c.792+5G>A Single submitter hereditary neoplastic syndrome
c.792+5G>C Single submitter hereditary neoplastic syndrome
c.792+7A>G Single submitter hereditary breast carcinoma
c.792+7A>T Single submitter hereditary breast carcinoma
c.793-12T>G Single submitter hereditary neoplastic syndrome
c.793-7A>G Single submitter hereditary neoplastic syndrome
c.846+3A>G Single submitter hereditary neoplastic syndrome
c.847-12C>G Single submitter hereditary breast carcinoma
c.847-2A>T Single submitter hereditary neoplastic syndrome ⚠
c.847-5C>G Single submitter hereditary breast carcinoma
c.847-6T>G Single submitter hereditary breast carcinoma
c.847-7T>C Single submitter hereditary breast carcinoma
c.847-7T>G Single submitter hereditary breast carcinoma
c.847-8C>T Single submitter hereditary breast carcinoma
c.908+2dup Single submitter hereditary neoplastic syndrome ⚠
c.908+3A>T Single submitter hereditary neoplastic syndrome
c.908+5G>A Single submitter hereditary neoplastic syndrome
c.908+5G>C Single submitter hereditary breast carcinoma
c.908+6T>C Single submitter hereditary neoplastic syndrome
c.-4C>T Single submitter hereditary neoplastic syndrome
c.-6-2A>C Single submitter hereditary neoplastic syndrome ⚠
c.-6-4T>C Single submitter hereditary breast carcinoma
c.-6-6T>C Single submitter hereditary breast carcinoma
c.-6G>A Single submitter bone osteosarcoma
c.*10T>G Single submitter hereditary neoplastic syndrome
c.*18C>T Single submitter Breast and/or ovarian cancer
c.*2C>T Single submitter hereditary neoplastic syndrome
c.*2dup Single submitter hereditary nonpolyposis colon cancer
c.*5C>T Single submitter hereditary neoplastic syndrome
c.*7T>C Single submitter hereditary neoplastic syndrome
p.77DQEPE[1] Single submitter Predisposition to cancer
p.Ala104Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala215Thr Single submitter hereditary breast carcinoma ⚠
p.Ala230Pro Single submitter CHEK2-related cancer predisposition ⚠
p.Ala392Val Single submitter bone osteosarcoma ⚠
p.Ala453Pro Single submitter prostate cancer, hereditary ⚠
p.Ala473_Thr476del Single submitter hereditary neoplastic syndrome
p.Ala530Thr Single submitter hereditary nonpolyposis colon cancer ⚠
p.Ala537Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala540Thr Single submitter hereditary breast carcinoma ⚠
p.Arg137Gln Single submitter Breast and/or ovarian cancer ⚠
p.Arg145Gln Single submitter colorectal cancer ⚠
p.Arg180Cys Single submitter Breast and/or ovarian cancer ⚠
p.Arg180His Single submitter hereditary neoplastic syndrome ⚠
p.Arg181Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg254Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg318His Single submitter CHEK2-related cancer predisposition ⚠
p.Arg346Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg346His Single submitter Predisposition to cancer ⚠
p.Arg3Trp Single submitter Hereditary cancer ⚠
p.Arg406Cys Single submitter Predisposition to cancer ⚠
p.Arg406His Single submitter Breast and/or ovarian cancer ⚠
p.Arg474Cys Single submitter bone osteosarcoma ⚠
p.Arg474His Single submitter CHEK2-related disorder ⚠
p.Arg493Ser Single submitter hereditary breast carcinoma ⚠
p.Arg519Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg519Leu Single submitter Predisposition to cancer ⚠
p.Arg523Cys Single submitter bone osteosarcoma ⚠
p.Arg523His Single submitter hereditary neoplastic syndrome ⚠
p.Arg523Leu Single submitter hereditary breast carcinoma ⚠
p.Arg523Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg535His Single submitter hereditary nonpolyposis colon cancer ⚠
p.Asn112Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn166Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn184Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn186His Single submitter Predisposition to cancer ⚠
p.Asn281Ser Single submitter hereditary nonpolyposis colon cancer ⚠
p.Asn405Lys Single submitter bone osteosarcoma ⚠
p.Asn405Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn446Asp Single submitter Predisposition to cancer ⚠
p.Asn503Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp134His Single submitter hereditary breast carcinoma ⚠
p.Asp162Gly Single submitter prostate cancer, hereditary ⚠
p.Asp311Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp347Asn Single submitter CHEK2-related disorder ⚠
p.Asp368Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp438Tyr Single submitter Hereditary cancer ⚠
p.Asp488Asn Single submitter hereditary breast carcinoma ⚠
p.Asp490Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp497Asn Single submitter CHEK2-related disorder ⚠
p.Cys108Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys18Ser Single submitter hereditary breast carcinoma ⚠
p.Cys243Arg Single submitter prostate cancer, hereditary ⚠
p.Cys420= Single submitter hereditary neoplastic syndrome
p.Cys420Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Gln336= Single submitter hereditary neoplastic syndrome
p.Gln510His Single submitter hereditary neoplastic syndrome ⚠
p.Gln510Ter Single submitter hereditary neoplastic syndrome ⚠
p.Glu107Lys Single submitter hereditary breast carcinoma ⚠
p.Glu122= Single submitter hereditary neoplastic syndrome
p.Glu161del Single submitter hereditary neoplastic syndrome
p.Glu219Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu239Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu295= Single submitter hereditary neoplastic syndrome
p.Glu295del Single submitter hereditary neoplastic syndrome
p.Glu295Lys Single submitter hereditary breast carcinoma ⚠
p.Glu302Lys Single submitter Predisposition to cancer ⚠
p.Glu359Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu359Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu394Lys Single submitter bone osteosarcoma ⚠
p.Glu429= Single submitter hereditary neoplastic syndrome
p.Glu501= Single submitter hereditary neoplastic syndrome
p.Glu501Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu504Gln Single submitter Hereditary cancer ⚠
p.Glu531= Single submitter hereditary neoplastic syndrome
p.Glu531Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu531Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu64Lys Single submitter bone osteosarcoma ⚠
p.Gly167Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly306Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gly423= Single submitter hereditary neoplastic syndrome
p.Gly529Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly529Ser Single submitter hereditary neoplastic syndrome ⚠
p.His13Arg Single submitter hereditary neoplastic syndrome ⚠
p.His143Arg Single submitter Li-Fraumeni syndrome ⚠
p.His143Tyr Single submitter hereditary nonpolyposis colon cancer ⚠
p.His282= Single submitter hereditary neoplastic syndrome
p.His371Tyr Single submitter CHEK2-related disorder ⚠
p.His483Arg Single submitter hereditary neoplastic syndrome ⚠
p.Ile157Ser Single submitter CHEK2-related cancer predisposition ⚠
p.Ile160Arg Single submitter Predisposition to cancer ⚠
p.Ile160Leu Single submitter hereditary breast carcinoma ⚠
p.Ile160Met Single submitter Breast and/or ovarian cancer ⚠
p.Ile160Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile221Met Single submitter Predisposition to cancer ⚠
p.Ile221Val Single submitter CHEK2-related disorder ⚠
p.Ile251Phe Single submitter bone osteosarcoma ⚠
p.Ile285= Single submitter hereditary neoplastic syndrome
p.Ile38Thr Single submitter hereditary breast carcinoma ⚠
p.Ile38Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu183Phe Single submitter CHEK2-related disorder ⚠
p.Leu396Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu436Met Single submitter hereditary neoplastic syndrome ⚠
p.Leu508Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu512Val Single submitter hereditary breast carcinoma ⚠
p.Leu543Ser Single submitter hereditary neoplastic syndrome ⚠
p.Lys119Arg Single submitter hereditary breast carcinoma ⚠
p.Lys312Arg Single submitter hereditary breast carcinoma ⚠
p.Lys317Glu Single submitter Breast and/or ovarian cancer ⚠
p.Lys320Asn Single submitter hereditary breast carcinoma ⚠
p.Lys365Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys458= Single submitter hereditary neoplastic syndrome
p.Lys458_Ala459delinsAsnSer Single submitter Predisposition to cancer
p.Lys464= Single submitter hereditary neoplastic syndrome
p.Lys492Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys494Asn Single submitter Li-Fraumeni syndrome 1 ⚠
p.Lys520= Single submitter hereditary breast carcinoma
p.Met1Ile Single submitter hereditary neoplastic syndrome ⚠
p.Met1Leu Single submitter hereditary breast carcinoma ⚠
p.Met1Phe Single submitter hereditary neoplastic syndrome ⚠
p.Met1Val Single submitter hereditary neoplastic syndrome ⚠
p.Met222Val Single submitter hereditary neoplastic syndrome ⚠
p.Met46Ile Single submitter hereditary neoplastic syndrome ⚠
p.Phe475= Single submitter hereditary neoplastic syndrome
p.Phe475Ile Single submitter hereditary breast carcinoma ⚠
p.Pro21Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro484= Single submitter CHEK2-related cancer predisposition
p.Pro484Leu Single submitter Li-Fraumeni syndrome ⚠
p.Pro509Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro509Ser Single submitter prostate cancer, hereditary ⚠
p.Pro522= Single submitter hereditary neoplastic syndrome
p.Pro522Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro536Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro85Arg Single submitter hereditary neoplastic syndrome ⚠
p.Ser140= Single submitter hereditary neoplastic syndrome
p.Ser16Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ser194Cys Single submitter hereditary neoplastic syndrome ⚠
p.Ser228Asn Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ser228Thr Single submitter hereditary breast carcinoma ⚠
p.Ser24Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ser252Asn Single submitter hereditary nonpolyposis colon cancer ⚠
p.Ser372Cys Single submitter hereditary neoplastic syndrome ⚠
p.Ser428Phe Single submitter prostate cancer, hereditary ⚠
p.Ser44= Single submitter hereditary neoplastic syndrome
p.Ser500Cys Single submitter hereditary neoplastic syndrome ⚠
p.Ser500Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ser505Pro Single submitter CHEK2-related cancer predisposition ⚠
p.Ser505Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ser53Thr Single submitter hereditary breast carcinoma ⚠
p.Ser5Leu Single submitter hereditary neoplastic syndrome ⚠
p.Thr383Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr387Ala Single submitter hereditary breast carcinoma ⚠
p.Thr441= Single submitter hereditary neoplastic syndrome
p.Thr476Met Single submitter prostate cancer, hereditary ⚠
p.Thr506Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr533Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr89Ile Single submitter hereditary neoplastic syndrome ⚠
p.Tyr139= Single submitter hereditary breast carcinoma
p.Tyr139His Single submitter hereditary neoplastic syndrome ⚠
p.Tyr159His Single submitter prostate cancer, hereditary ⚠
p.Tyr390Cys Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Tyr424His Single submitter bone osteosarcoma ⚠
p.Tyr72Cys Single submitter hereditary breast carcinoma ⚠
p.Val198Ile Single submitter hereditary breast carcinoma ⚠
p.Val198Leu Single submitter CHEK2-related disorder ⚠
p.Val200Ala Single submitter hereditary breast carcinoma ⚠
p.Val25Ala Single submitter hereditary neoplastic syndrome ⚠
p.Val25Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val399Asp Single submitter hereditary breast carcinoma ⚠
p.Val399Phe Single submitter hereditary breast carcinoma ⚠
p.Val455Ile Single submitter hereditary nonpolyposis colon cancer ⚠
p.Val468Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val511= Single submitter hereditary neoplastic syndrome

Benign 78

c.1375+78C>G Multiple submitters
c.319+43dup Multiple submitters hereditary breast ovarian cancer syndrome
c.319+91G>A Multiple submitters
c.592+168T>C Multiple submitters
c.684-100_684-78dup Multiple submitters hereditary breast ovarian cancer syndrome
c.684-107T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.684-224T>C Multiple submitters
c.793-127T>C Multiple submitters
c.1008+191del Single submitter
c.1009-264T>C Single submitter
c.1095+169G>A Single submitter
c.1095+250T>C Single submitter
c.1096-104A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.1096-320G>A Single submitter
c.1260-140G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.1375+225C>T Single submitter
c.1375+347T>G Single submitter
c.1376-258C>T Single submitter
c.1376-376C>G Single submitter
c.1462-97_1462-96insC Single submitter
c.1542+74A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.1543-192A>G Single submitter
c.1543-411C>T Single submitter
c.319+3621G>A Single submitter
c.319+4038_319+4043del Single submitter
c.319+4177C>T Single submitter
c.319+4206T>C Single submitter
c.319+4426= Single submitter
c.592+11T>C Single submitter hereditary breast carcinoma
c.593-15T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.593-2152del Single submitter
c.683+42A>G Single submitter hereditary breast ovarian cancer syndrome
c.792+325C>G Single submitter
c.793-302T>A Single submitter
c.847-17dup Single submitter hereditary breast carcinoma
c.847-200A>G Single submitter
c.908+18dup Single submitter hereditary breast carcinoma
c.908+32T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.-40G>T Single submitter
c.-6-99del Single submitter
c.-6-99dup Single submitter
c.-7+11T>A Single submitter
c.-7+2214C>T Single submitter
c.-7+2398dup Single submitter
c.-7+286A>T Single submitter
c.-7+62del Single submitter
c.*1A>G Single submitter hereditary breast carcinoma
c.*6G>C Single submitter hereditary breast carcinoma
c.*9G>C Single submitter hereditary breast carcinoma
p.Ala190= Single submitter hereditary breast carcinoma
p.Ala257= Single submitter hereditary breast carcinoma
p.Ala480= Single submitter hereditary breast carcinoma
p.Ala91= Single submitter hereditary breast carcinoma
p.Arg180= Single submitter hereditary breast carcinoma
p.Arg382= Single submitter hereditary breast carcinoma
p.Asp162= Single submitter hereditary breast carcinoma
p.Asp311= Single submitter hereditary breast carcinoma
p.Gln510= Single submitter hereditary breast carcinoma
p.Glu504= Single submitter hereditary breast carcinoma
p.Gly14= Single submitter hereditary breast carcinoma
p.Gly167= Single submitter hereditary breast carcinoma
p.Leu183= Single submitter hereditary breast carcinoma
p.Leu226= Single submitter hereditary breast carcinoma
p.Leu481= Single submitter hereditary breast carcinoma
p.Leu543_Ter544insTer Single submitter hereditary breast carcinoma
p.Phe418= Single submitter hereditary breast carcinoma
p.Phe447= Single submitter hereditary breast carcinoma
p.Pro350= Single submitter hereditary breast carcinoma
p.Pro92= Single submitter hereditary breast carcinoma
p.Ser155= Single submitter hereditary breast carcinoma
p.Ser19= Single submitter hereditary breast carcinoma
p.Ser57= Single submitter hereditary breast carcinoma
p.Thr242= Single submitter hereditary breast carcinoma
p.Thr506= Single submitter hereditary breast carcinoma
p.Thr533= Single submitter hereditary breast carcinoma
p.Thr59= Single submitter hereditary breast carcinoma
p.Tyr329= Single submitter hereditary breast carcinoma
p.Val246= Single submitter hereditary breast carcinoma

Benign/Likely benign 210

c.1008+13C>T Multiple submitters prostate cancer, hereditary
c.1008+8A>G Multiple submitters hereditary neoplastic syndrome
c.1095+19G>A Multiple submitters hereditary neoplastic syndrome
c.1259+17T>C Multiple submitters hereditary breast carcinoma
c.1260-18C>T Multiple submitters hereditary breast carcinoma
c.1462-20T>C Multiple submitters hereditary neoplastic syndrome
c.1542+11T>A Multiple submitters hereditary neoplastic syndrome
c.1543-14dup Multiple submitters hereditary breast carcinoma
c.444+19T>C Multiple submitters Breast and/or ovarian cancer
c.592+13T>C Multiple submitters hereditary breast carcinoma
c.592+17A>G Multiple submitters hereditary breast carcinoma
c.592+50A>T Multiple submitters hereditary breast carcinoma
c.592+5TAT[2] Multiple submitters hereditary neoplastic syndrome
c.592+81del Multiple submitters hereditary breast carcinoma
c.593-14C>T Multiple submitters hereditary neoplastic syndrome
c.793-11G>A Multiple submitters hereditary breast carcinoma
c.793-17T>C Multiple submitters hereditary neoplastic syndrome
c.793-21_793-20del Multiple submitters hereditary breast carcinoma
c.847-10C>G Multiple submitters bone osteosarcoma
c.847-17T>C Multiple submitters hereditary neoplastic syndrome
c.847-30_847-11dup Multiple submitters CHEK2-related cancer predisposition
c.908+18del Multiple submitters hereditary breast carcinoma
c.908+19A>T Multiple submitters hereditary neoplastic syndrome
c.909-28_909-20del Multiple submitters hereditary neoplastic syndrome
c.*2C>A Multiple submitters hereditary neoplastic syndrome
c.*6G>A Multiple submitters hereditary neoplastic syndrome
p.Ala17= Multiple submitters hereditary neoplastic syndrome
p.Ala215= Multiple submitters hereditary neoplastic syndrome
p.Ala267= Multiple submitters hereditary neoplastic syndrome
p.Ala294= Multiple submitters hereditary breast carcinoma
p.Ala459= Multiple submitters hereditary neoplastic syndrome
p.Ala527= Multiple submitters hereditary neoplastic syndrome
p.Ala530= Multiple submitters hereditary breast carcinoma
p.Ala537= Multiple submitters hereditary breast carcinoma
p.Ala540= Multiple submitters hereditary breast carcinoma
p.Ala541= Multiple submitters hereditary neoplastic syndrome
p.Ala9= Multiple submitters hereditary neoplastic syndrome
p.Arg137= Multiple submitters hereditary neoplastic syndrome
p.Arg254= Multiple submitters hereditary neoplastic syndrome
p.Arg262= Multiple submitters hereditary neoplastic syndrome
p.Arg318= Multiple submitters hereditary neoplastic syndrome
p.Arg431= Multiple submitters hereditary breast carcinoma
p.Arg474= Multiple submitters hereditary breast carcinoma
p.Arg493= Multiple submitters hereditary neoplastic syndrome
p.Asn110= Multiple submitters hereditary neoplastic syndrome
p.Asn112= Multiple submitters hereditary breast carcinoma
p.Asn166= Multiple submitters hereditary neoplastic syndrome
p.Asn341= Multiple submitters hereditary breast carcinoma
p.Asn352= Multiple submitters hereditary neoplastic syndrome
p.Asp207= Multiple submitters hereditary breast carcinoma
p.Asp208= Multiple submitters hereditary breast carcinoma
p.Asp218= Multiple submitters hereditary neoplastic syndrome
p.Asp293= Multiple submitters hereditary breast carcinoma
p.Asp361= Multiple submitters hereditary breast carcinoma
p.Asp461= Multiple submitters hereditary neoplastic syndrome
p.Asp470= Multiple submitters hereditary neoplastic syndrome
p.Asp497= Multiple submitters hereditary neoplastic syndrome
p.Asp6= Multiple submitters hereditary neoplastic syndrome
p.Cys124= Multiple submitters hereditary neoplastic syndrome
p.Cys18= Multiple submitters hereditary breast carcinoma
p.Cys284= Multiple submitters hereditary neoplastic syndrome
p.Gln10= Multiple submitters hereditary breast carcinoma
p.Gln100= Multiple submitters hereditary neoplastic syndrome
p.Gln29= Multiple submitters hereditary neoplastic syndrome
p.Gln330= Multiple submitters hereditary nonpolyposis colon cancer
p.Gln34= Multiple submitters hereditary neoplastic syndrome
p.Gln433= Multiple submitters hereditary breast carcinoma
p.Gln83= Multiple submitters hereditary neoplastic syndrome
p.Glu127= Multiple submitters hereditary nonpolyposis colon cancer
p.Glu161= Multiple submitters hereditary neoplastic syndrome
p.Glu219= Multiple submitters hereditary neoplastic syndrome
p.Glu239= Multiple submitters hereditary breast carcinoma
p.Glu308= Multiple submitters hereditary breast carcinoma
p.Glu360= Multiple submitters hereditary breast carcinoma
p.Glu454= Multiple submitters hereditary neoplastic syndrome
p.Glu479= Multiple submitters hereditary breast carcinoma
p.Glu489= Multiple submitters hereditary neoplastic syndrome
p.Glu502= Multiple submitters hereditary neoplastic syndrome
p.Glu8= Multiple submitters hereditary breast carcinoma
p.Glu81= Multiple submitters hereditary neoplastic syndrome
p.Glu84= Multiple submitters hereditary neoplastic syndrome
p.Glu87= Multiple submitters hereditary breast carcinoma
p.Gly176= Multiple submitters Breast and/or ovarian cancer
p.Gly178= Multiple submitters hereditary neoplastic syndrome
p.Gly23= Multiple submitters hereditary breast carcinoma
p.Gly259= Multiple submitters hereditary breast carcinoma
p.Gly30= Multiple submitters hereditary breast carcinoma
p.Gly315= Multiple submitters hereditary neoplastic syndrome
p.Gly370= Multiple submitters hereditary breast carcinoma
p.Gly376= Multiple submitters hereditary nonpolyposis colon cancer
p.Gly403= Multiple submitters hereditary breast carcinoma
p.Gly529= Multiple submitters hereditary breast carcinoma
p.His22= Multiple submitters hereditary neoplastic syndrome
p.His345= Multiple submitters hereditary neoplastic syndrome
p.His371= Multiple submitters hereditary neoplastic syndrome
p.His430= Multiple submitters hereditary neoplastic syndrome
p.His483= Multiple submitters hereditary breast carcinoma
p.Ile157= Multiple submitters hereditary breast carcinoma
p.Ile250= Multiple submitters hereditary breast carcinoma
p.Ile251= Multiple submitters Li-Fraumeni syndrome
p.Ile448Ser Multiple submitters Breast and/or ovarian cancer
p.Ile74= Multiple submitters hereditary breast carcinoma
p.Leu130= Multiple submitters hereditary neoplastic syndrome
p.Leu204= Multiple submitters hereditary neoplastic syndrome
p.Leu268= Multiple submitters hereditary breast carcinoma
p.Leu280= Multiple submitters hereditary breast carcinoma
p.Leu303= Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu309= Multiple submitters hereditary neoplastic syndrome
p.Leu319= Multiple submitters hereditary neoplastic syndrome
p.Leu326= Multiple submitters hereditary neoplastic syndrome
p.Leu333= Multiple submitters hereditary breast carcinoma
p.Leu354= Multiple submitters hereditary neoplastic syndrome
p.Leu355= Multiple submitters hereditary neoplastic syndrome
p.Leu363= Multiple submitters hereditary neoplastic syndrome
p.Leu375= Multiple submitters hereditary breast carcinoma
p.Leu380= Multiple submitters hereditary neoplastic syndrome
p.Leu384= Multiple submitters hereditary neoplastic syndrome
p.Leu391= Multiple submitters hereditary neoplastic syndrome
p.Leu413= Multiple submitters hereditary neoplastic syndrome
p.Leu436= Multiple submitters hereditary breast carcinoma
p.Leu462= Multiple submitters hereditary neoplastic syndrome
p.Leu498= Multiple submitters hereditary neoplastic syndrome
p.Leu499= Multiple submitters hereditary neoplastic syndrome
p.Leu512= Multiple submitters hereditary neoplastic syndrome
p.Leu543= Multiple submitters hereditary breast carcinoma
p.Leu60= Multiple submitters hereditary neoplastic syndrome
p.Leu63= Multiple submitters hereditary neoplastic syndrome
p.Leu71= Multiple submitters hereditary breast carcinoma
p.Leu96= Multiple submitters hereditary neoplastic syndrome
p.Lys131= Multiple submitters hereditary breast carcinoma
p.Lys142= Multiple submitters hereditary neoplastic syndrome
p.Lys179= Multiple submitters hereditary breast carcinoma
p.Lys214= Multiple submitters hereditary neoplastic syndrome
p.Lys235= Multiple submitters hereditary neoplastic syndrome
p.Lys253= Multiple submitters hereditary neoplastic syndrome
p.Lys255= Multiple submitters hereditary breast carcinoma
p.Lys317= Multiple submitters hereditary breast carcinoma
p.Lys320= Multiple submitters hereditary breast carcinoma
p.Lys325= Multiple submitters hereditary breast carcinoma
p.Lys373= Multiple submitters hereditary neoplastic syndrome
p.Lys437= Multiple submitters hereditary breast carcinoma
p.Lys465= Multiple submitters hereditary neoplastic syndrome
p.Lys472= Multiple submitters hereditary breast carcinoma
p.Lys492= Multiple submitters hereditary breast carcinoma
p.Lys534= Multiple submitters hereditary neoplastic syndrome
p.Phe144= Multiple submitters hereditary neoplastic syndrome
p.Phe169= Multiple submitters hereditary neoplastic syndrome
p.Phe199= Multiple submitters hereditary breast carcinoma
p.Phe238= Multiple submitters hereditary neoplastic syndrome
p.Phe427= Multiple submitters hereditary breast carcinoma
p.Pro213= Multiple submitters hereditary neoplastic syndrome
p.Pro283= Multiple submitters hereditary breast carcinoma
p.Pro388= Multiple submitters hereditary neoplastic syndrome
p.Pro425= Multiple submitters hereditary neoplastic syndrome
p.Pro80= Multiple submitters hereditary neoplastic syndrome
p.Pro85= Multiple submitters hereditary neoplastic syndrome
p.Pro85Leu Multiple submitters hereditary neoplastic syndrome
p.Ser16= Multiple submitters hereditary neoplastic syndrome
p.Ser187= Multiple submitters hereditary neoplastic syndrome
p.Ser192= Multiple submitters hereditary breast carcinoma
p.Ser194= Multiple submitters hereditary neoplastic syndrome
p.Ser2= Multiple submitters hereditary breast carcinoma
p.Ser24= Multiple submitters hereditary nonpolyposis colon cancer
p.Ser28= Multiple submitters hereditary neoplastic syndrome
p.Ser31= Multiple submitters hereditary neoplastic syndrome
p.Ser33= Multiple submitters hereditary breast carcinoma
p.Ser35= Multiple submitters hereditary breast carcinoma
p.Ser379= Multiple submitters hereditary neoplastic syndrome
p.Ser39= Multiple submitters hereditary neoplastic syndrome
p.Ser40= Multiple submitters hereditary breast carcinoma
p.Ser428= Multiple submitters hereditary breast carcinoma
p.Ser435= Multiple submitters hereditary neoplastic syndrome
p.Ser456= Multiple submitters hereditary neoplastic syndrome
p.Ser5= Multiple submitters Breast and/or ovarian cancer
p.Ser50= Multiple submitters hereditary neoplastic syndrome
p.Ser500= Multiple submitters hereditary neoplastic syndrome
p.Ser516= Multiple submitters hereditary neoplastic syndrome
p.Ser62= Multiple submitters hereditary neoplastic syndrome
p.Thr138= Multiple submitters hereditary neoplastic syndrome
p.Thr172= Multiple submitters hereditary breast carcinoma
p.Thr26= Multiple submitters hereditary neoplastic syndrome
p.Thr389= Multiple submitters hereditary neoplastic syndrome
p.Thr43= Multiple submitters hereditary neoplastic syndrome
p.Thr432= Multiple submitters hereditary breast carcinoma
p.Thr45= Multiple submitters hereditary neoplastic syndrome
p.Thr476= Multiple submitters hereditary breast carcinoma
p.Thr477= Multiple submitters hereditary neoplastic syndrome
p.Thr517= Multiple submitters hereditary breast carcinoma
p.Thr532= Multiple submitters hereditary breast carcinoma
p.Thr68= Multiple submitters hereditary neoplastic syndrome
p.Tyr113= Multiple submitters hereditary breast carcinoma
p.Tyr123= Multiple submitters hereditary neoplastic syndrome
p.Tyr156= Multiple submitters hereditary breast carcinoma
p.Tyr220= Multiple submitters hereditary breast carcinoma
p.Tyr297= Multiple submitters hereditary breast carcinoma
p.Tyr298= Multiple submitters hereditary breast carcinoma
p.Tyr424= Multiple submitters hereditary neoplastic syndrome
p.Tyr445= Multiple submitters hereditary neoplastic syndrome
p.Val109= Multiple submitters hereditary breast carcinoma
p.Val175= Multiple submitters hereditary breast carcinoma
p.Val200= Multiple submitters hereditary neoplastic syndrome
p.Val211= Multiple submitters hereditary nonpolyposis colon cancer
p.Val25= Multiple submitters hereditary breast carcinoma
p.Val270= Multiple submitters hereditary neoplastic syndrome
p.Val313= Multiple submitters hereditary neoplastic syndrome
p.Val314= Multiple submitters hereditary neoplastic syndrome
p.Val399= Multiple submitters hereditary breast carcinoma
p.Val434= Multiple submitters hereditary breast carcinoma
p.Val455= Multiple submitters hereditary neoplastic syndrome
p.Val469= Multiple submitters Breast and/or ovarian cancer

Likely benign 714

Showing the top 300 by review status; the full set is in the sitemap.

c.1008+15C>G Multiple submitters hereditary neoplastic syndrome
c.1008+6dup Multiple submitters hereditary breast carcinoma
c.1008+7G>A Multiple submitters hereditary breast carcinoma
c.1009-14G>A Multiple submitters hereditary breast carcinoma
c.1009-16C>A Multiple submitters hereditary neoplastic syndrome
c.1009-18G>A Multiple submitters hereditary neoplastic syndrome
c.1009-18G>C Multiple submitters hereditary breast carcinoma
c.1009-20A>G Multiple submitters hereditary breast carcinoma
c.1009-8C>T Multiple submitters hereditary breast carcinoma
c.1095+12G>A Multiple submitters hereditary breast carcinoma
c.1095+19G>C Multiple submitters hereditary neoplastic syndrome
c.1095+8A>G Multiple submitters hereditary neoplastic syndrome
c.1096-16T>C Multiple submitters hereditary neoplastic syndrome
c.1096-17T>C Multiple submitters hereditary breast carcinoma
c.1096-7A>C Multiple submitters hereditary breast carcinoma
c.1096-8A>T Multiple submitters hereditary breast carcinoma
c.1259+14T>A Multiple submitters hereditary breast carcinoma
c.1259+14T>C Multiple submitters hereditary neoplastic syndrome
c.1259+16A>G Multiple submitters hereditary neoplastic syndrome
c.1259+20C>T Multiple submitters hereditary neoplastic syndrome
c.1259+7A>G Multiple submitters hereditary breast carcinoma
c.1260-10C>T Multiple submitters hereditary breast carcinoma
c.1260-12A>G Multiple submitters hereditary neoplastic syndrome
c.1260-18C>G Multiple submitters hereditary neoplastic syndrome
c.1260-19T>C Multiple submitters hereditary breast carcinoma
c.1260-6A>G Multiple submitters hereditary neoplastic syndrome
c.1375+10T>A Multiple submitters hereditary breast carcinoma
c.1375+16G>A Multiple submitters hereditary breast carcinoma
c.1375+17del Multiple submitters hereditary neoplastic syndrome
c.1375+17G>A Multiple submitters hereditary neoplastic syndrome
c.1375+20A>G Multiple submitters hereditary neoplastic syndrome
c.1375+9A>G Multiple submitters hereditary breast carcinoma
c.1376-11T>C Multiple submitters hereditary breast carcinoma
c.1376-13A>T Multiple submitters hereditary breast carcinoma
c.1376-15C>T Multiple submitters hereditary breast carcinoma
c.1376-16C>T Multiple submitters hereditary breast carcinoma
c.1376-19T>C Multiple submitters hereditary breast carcinoma
c.1376-6C>T Multiple submitters hereditary breast carcinoma
c.1376-8T>C Multiple submitters hereditary breast carcinoma
c.1461+18C>T Multiple submitters hereditary breast carcinoma
c.1461+7G>A Multiple submitters hereditary breast carcinoma
c.1461+7G>T Multiple submitters hereditary breast carcinoma
c.1461+8T>C Multiple submitters hereditary breast carcinoma
c.1462-18T>C Multiple submitters hereditary breast carcinoma
c.1462-198C>T Multiple submitters
c.1462-19G>A Multiple submitters hereditary breast carcinoma
c.1542+10T>C Multiple submitters hereditary breast carcinoma
c.1542+11T>C Multiple submitters hereditary neoplastic syndrome
c.1542+16A>G Multiple submitters hereditary breast carcinoma
c.1542+6C>T Multiple submitters hereditary neoplastic syndrome
c.1542+7G>A Multiple submitters hereditary breast carcinoma
c.1542+9A>G Multiple submitters hereditary breast carcinoma
c.1543-10T>C Multiple submitters hereditary neoplastic syndrome
c.1543-12C>G Multiple submitters hereditary breast carcinoma
c.1543-13C>T Multiple submitters hereditary breast carcinoma
c.1543-20C>G Multiple submitters hereditary neoplastic syndrome
c.1543-4T>C Multiple submitters hereditary breast carcinoma
c.1543-7T>C Multiple submitters hereditary breast carcinoma
c.319+17T>C Multiple submitters hereditary breast carcinoma
c.319+3774C>T Multiple submitters
c.319+3980C>T Multiple submitters hereditary breast carcinoma
c.319+7C>A Multiple submitters hereditary breast carcinoma
c.319+7C>G Multiple submitters hereditary breast carcinoma
c.319+8C>A Multiple submitters hereditary breast carcinoma
c.319+8C>G Multiple submitters hereditary neoplastic syndrome
c.319+9C>G Multiple submitters hereditary breast carcinoma
c.319+9C>T Multiple submitters hereditary breast carcinoma
c.320-16T>C Multiple submitters hereditary neoplastic syndrome
c.320-17A>G Multiple submitters hereditary breast carcinoma
c.320-20T>C Multiple submitters hereditary breast carcinoma
c.320-4A>G Multiple submitters hereditary neoplastic syndrome
c.320-7A>C Multiple submitters hereditary breast carcinoma
c.320-7A>G Multiple submitters CHEK2-related cancer predisposition
c.444+18A>G Multiple submitters hereditary breast carcinoma
c.444+20G>T Multiple submitters hereditary neoplastic syndrome
c.444+24C>T Multiple submitters
c.444+9T>C Multiple submitters hereditary breast carcinoma
c.445-10T>C Multiple submitters CHEK2-related cancer predisposition
c.445-11dup Multiple submitters hereditary breast carcinoma
c.445-14G>A Multiple submitters hereditary neoplastic syndrome
c.445-7A>G Multiple submitters hereditary breast carcinoma
c.445-8T>C Multiple submitters hereditary breast carcinoma
c.592+10T>C Multiple submitters hereditary breast carcinoma
c.592+12_592+13del Multiple submitters hereditary breast carcinoma
c.592+16T>G Multiple submitters hereditary neoplastic syndrome
c.592+18T>C Multiple submitters hereditary neoplastic syndrome
c.592+39dup Multiple submitters
c.592+7T>C Multiple submitters hereditary breast carcinoma
c.592+8T>C Multiple submitters hereditary breast carcinoma
c.593-15T>C Multiple submitters CHEK2-related cancer predisposition
c.593-16C>T Multiple submitters hereditary breast carcinoma
c.593-17A>T Multiple submitters hereditary breast carcinoma
c.593-18T>C Multiple submitters hereditary breast carcinoma
c.593-20_593-18del Multiple submitters hereditary breast carcinoma
c.593-20T>G Multiple submitters hereditary breast carcinoma
c.593-7T>A Multiple submitters hereditary neoplastic syndrome
c.593-9C>G Multiple submitters hereditary breast carcinoma
c.593-9C>T Multiple submitters hereditary breast carcinoma
c.683+10T>C Multiple submitters hereditary breast carcinoma
c.683+17T>C Multiple submitters hereditary breast carcinoma
c.684-10T>C Multiple submitters hereditary breast carcinoma
c.684-11T>G Multiple submitters hereditary neoplastic syndrome
c.684-13T>C Multiple submitters hereditary breast carcinoma
c.684-14G>A Multiple submitters hereditary breast carcinoma
c.684-16T>C Multiple submitters hereditary neoplastic syndrome
c.684-20A>G Multiple submitters hereditary neoplastic syndrome
c.684-4C>A Multiple submitters hereditary neoplastic syndrome
c.684-4C>T Multiple submitters hereditary neoplastic syndrome
c.684-6C>T Multiple submitters hereditary neoplastic syndrome
c.684-6del Multiple submitters hereditary breast carcinoma
c.684-74G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.792+10A>G Multiple submitters hereditary breast carcinoma
c.792+11A>G Multiple submitters hereditary breast carcinoma
c.792+17G>A Multiple submitters hereditary neoplastic syndrome
c.792+9C>T Multiple submitters hereditary breast carcinoma
c.793-12T>C Multiple submitters hereditary breast carcinoma
c.793-13C>T Multiple submitters hereditary neoplastic syndrome
c.793-15T>C Multiple submitters hereditary breast carcinoma
c.793-17T>G Multiple submitters hereditary neoplastic syndrome
c.793-19G>A Multiple submitters hereditary breast carcinoma
c.793-4A>G Multiple submitters hereditary neoplastic syndrome
c.793-9_793-8del Multiple submitters hereditary breast carcinoma
c.846+10A>G Multiple submitters hereditary breast carcinoma
c.846+12_846+16del Multiple submitters hereditary breast carcinoma
c.846+12T>C Multiple submitters hereditary breast carcinoma
c.846+15_846+16del Multiple submitters hereditary breast carcinoma
c.846+7A>G Multiple submitters hereditary neoplastic syndrome
c.846+7A>T Multiple submitters hereditary breast carcinoma
c.846+9del Multiple submitters hereditary breast carcinoma
c.847-10del Multiple submitters hereditary breast carcinoma
c.847-12C>T Multiple submitters hereditary breast carcinoma
c.847-16C>T Multiple submitters hereditary breast carcinoma
c.847-5_847-3del Multiple submitters hereditary breast carcinoma
c.908+10A>G Multiple submitters hereditary neoplastic syndrome
c.908+11A>T Multiple submitters hereditary neoplastic syndrome
c.908+14T>G Multiple submitters hereditary neoplastic syndrome
c.908+16T>C Multiple submitters hereditary breast carcinoma
c.908+16T>G Multiple submitters hereditary neoplastic syndrome
c.908+18T>A Multiple submitters hereditary neoplastic syndrome
c.908+18T>C Multiple submitters hereditary breast carcinoma
c.908+19A>G Multiple submitters hereditary breast carcinoma
c.908+7A>T Multiple submitters hereditary breast carcinoma
c.909-10T>C Multiple submitters hereditary breast carcinoma
c.909-13C>T Multiple submitters hereditary breast carcinoma
c.909-14_909-9del Multiple submitters hereditary breast carcinoma
c.909-15G>A Multiple submitters hereditary breast carcinoma
c.909-18C>T Multiple submitters hereditary breast carcinoma
c.909-19C>T Multiple submitters hereditary breast carcinoma
c.909-20G>A Multiple submitters hereditary breast carcinoma
c.909-7G>A Multiple submitters hereditary breast carcinoma
c.909-8T>C Multiple submitters hereditary breast carcinoma
c.-10dup Multiple submitters
c.*16C>T Multiple submitters hereditary neoplastic syndrome
p.Ala230= Multiple submitters hereditary breast carcinoma
p.Ala264= Multiple submitters hereditary breast carcinoma
p.Ala392= Multiple submitters hereditary neoplastic syndrome
p.Ala507= Multiple submitters hereditary breast carcinoma
p.Ala94= Multiple submitters hereditary neoplastic syndrome
p.Arg117= Multiple submitters hereditary breast carcinoma
p.Arg346= Multiple submitters hereditary neoplastic syndrome
p.Asn154= Multiple submitters hereditary neoplastic syndrome
p.Asn186= Multiple submitters hereditary neoplastic syndrome
p.Asn281= Multiple submitters hereditary neoplastic syndrome
p.Asn405= Multiple submitters hereditary neoplastic syndrome
p.Asp347= Multiple submitters hereditary neoplastic syndrome
p.Asp77= Multiple submitters hereditary neoplastic syndrome
p.Cys231= Multiple submitters hereditary breast carcinoma
p.Cys243= Multiple submitters hereditary neoplastic syndrome
p.Cys410= Multiple submitters hereditary neoplastic syndrome
p.Gln209= Multiple submitters hereditary neoplastic syndrome
p.Gln36= Multiple submitters hereditary neoplastic syndrome
p.Glu149= Multiple submitters hereditary neoplastic syndrome
p.Glu233= Multiple submitters hereditary neoplastic syndrome
p.Glu4= Multiple submitters hereditary neoplastic syndrome
p.Glu526= Multiple submitters hereditary breast carcinoma
p.Gly102= Multiple submitters hereditary neoplastic syndrome
p.Ile146= Multiple submitters hereditary neoplastic syndrome
p.Ile189= Multiple submitters hereditary neoplastic syndrome
p.Ile366= Multiple submitters hereditary breast carcinoma
p.Ile419= Multiple submitters hereditary breast carcinoma
p.Leu191= Multiple submitters hereditary neoplastic syndrome
p.Leu332= Multiple submitters hereditary neoplastic syndrome
p.Leu467= Multiple submitters hereditary neoplastic syndrome
p.Lys153= Multiple submitters hereditary neoplastic syndrome
p.Lys244= Multiple submitters hereditary neoplastic syndrome
p.Phe291= Multiple submitters hereditary neoplastic syndrome
p.Phe292= Multiple submitters hereditary neoplastic syndrome
p.Pro393= Multiple submitters hereditary neoplastic syndrome
p.Pro47= Multiple submitters hereditary breast carcinoma
p.Ser120= Multiple submitters hereditary neoplastic syndrome
p.Ser223= Multiple submitters hereditary breast carcinoma
p.Ser228= Multiple submitters hereditary neoplastic syndrome
p.Ser252= Multiple submitters hereditary neoplastic syndrome
p.Ser32= Multiple submitters hereditary neoplastic syndrome
p.Ser372= Multiple submitters hereditary neoplastic syndrome
p.Ser442= Multiple submitters hereditary breast carcinoma
p.Ser67= Multiple submitters hereditary neoplastic syndrome
p.Thr205= Multiple submitters hereditary neoplastic syndrome
p.Thr272= Multiple submitters hereditary neoplastic syndrome
p.Thr387= Multiple submitters hereditary neoplastic syndrome
p.Tyr327= Multiple submitters Breast and/or ovarian cancer
p.Tyr390= Multiple submitters hereditary breast carcinoma
p.Val150= Multiple submitters hereditary neoplastic syndrome
p.Val198= Multiple submitters hereditary neoplastic syndrome
p.Val300= Multiple submitters hereditary breast carcinoma
p.Val468= Multiple submitters hereditary neoplastic syndrome
p.Val542= Multiple submitters hereditary neoplastic syndrome
c.1008+10G>A Single submitter hereditary breast carcinoma
c.1008+11C>A Single submitter hereditary breast carcinoma
c.1008+13C>A Single submitter hereditary breast carcinoma
c.1008+14T>A Single submitter hereditary breast carcinoma
c.1008+14T>C Single submitter hereditary breast carcinoma
c.1008+16A>C Single submitter hereditary breast carcinoma
c.1008+16A>G Single submitter hereditary breast carcinoma
c.1008+16A>T Single submitter hereditary breast carcinoma
c.1008+17A>C Single submitter hereditary breast carcinoma
c.1008+17A>G Single submitter hereditary breast carcinoma
c.1008+20C>A Single submitter hereditary breast carcinoma
c.1008+25G>T Single submitter
c.1008+7del Single submitter hereditary breast carcinoma
c.1009-10T>G Single submitter hereditary breast carcinoma
c.1009-13C>G Single submitter hereditary breast carcinoma
c.1009-17C>T Single submitter hereditary breast carcinoma
c.1009-18G>T Single submitter hereditary breast carcinoma
c.1009-19T>A Single submitter hereditary breast carcinoma
c.1009-19T>C Single submitter hereditary breast carcinoma
c.1009-20A>T Single submitter hereditary breast carcinoma
c.1009-22T>C Single submitter
c.1009-6G>A Single submitter hereditary breast carcinoma
c.1009-6G>C Single submitter hereditary breast carcinoma
c.1009-6G>T Single submitter hereditary breast carcinoma
c.1095+11G>A Single submitter hereditary neoplastic syndrome
c.1095+12G>T Single submitter hereditary breast carcinoma
c.1095+14A>G Single submitter hereditary breast carcinoma
c.1095+14A>T Single submitter hereditary breast carcinoma
c.1095+163G>A Single submitter
c.1095+23G>C Single submitter
c.1095+35G>A Single submitter
c.1095+8A>T Single submitter hereditary breast carcinoma
c.1095+9T>A Single submitter hereditary breast carcinoma
c.1095+9T>C Single submitter hereditary breast carcinoma
c.1096-10T>G Single submitter hereditary breast carcinoma
c.1096-129A>T Single submitter hereditary neoplastic syndrome
c.1096-12A>G Single submitter hereditary breast carcinoma
c.1096-12A>T Single submitter hereditary breast carcinoma
c.1096-14del Single submitter
c.1096-14G>A Single submitter hereditary breast carcinoma
c.1096-19C>T Single submitter hereditary breast carcinoma
c.1096-394G>C Single submitter
c.1096-40del Single submitter hereditary breast ovarian cancer syndrome
c.1096-47del Single submitter
c.1096-9G>T Single submitter hereditary breast carcinoma
c.1259+10A>G Single submitter hereditary breast carcinoma
c.1259+11T>C Single submitter hereditary breast carcinoma
c.1259+17T>A Single submitter hereditary breast carcinoma
c.1259+18T>G Single submitter hereditary breast carcinoma
c.1259+19G>C Single submitter hereditary breast carcinoma
c.1259+19G>T Single submitter hereditary breast carcinoma
c.1259+46G>A Single submitter
c.1259+7A>C Single submitter hereditary breast carcinoma
c.1260-11C>T Single submitter hereditary breast carcinoma
c.1260-14C>G Single submitter hereditary breast carcinoma
c.1260-14C>T Single submitter hereditary breast carcinoma
c.1260-16C>T Single submitter hereditary breast carcinoma
c.1260-17T>C Single submitter hereditary breast carcinoma
c.1260-20CT[2] Single submitter hereditary breast carcinoma
c.1260-5T>C Single submitter hereditary breast carcinoma
c.1260-9A>G Single submitter hereditary breast carcinoma
c.1375+11G>A Single submitter hereditary breast carcinoma
c.1375+13A>C Single submitter hereditary breast carcinoma
c.1375+13A>G Single submitter hereditary breast carcinoma
c.1375+15G>C Single submitter hereditary breast carcinoma
c.1375+15G>T Single submitter
c.1375+18T>C Single submitter hereditary breast carcinoma
c.1375+19T>G Single submitter hereditary breast carcinoma
c.1375+26T>C Single submitter
c.1375+7A>G Single submitter hereditary breast carcinoma
c.1375+8T>A Single submitter
c.1376-10G>A Single submitter hereditary breast carcinoma
c.1376-15C>G Single submitter hereditary breast carcinoma
c.1376-16C>A Single submitter hereditary breast carcinoma
c.1376-17C>G Single submitter hereditary breast carcinoma
c.1376-17C>T Single submitter hereditary breast carcinoma
c.1376-20T>C Single submitter hereditary breast carcinoma
c.1376-6C>G Single submitter hereditary breast carcinoma
c.1376-7G>A Single submitter hereditary breast carcinoma
c.1461+10G>A Single submitter hereditary breast carcinoma
c.1461+11G>C Single submitter hereditary breast carcinoma
c.1461+11G>T Single submitter hereditary breast carcinoma
c.1461+12A>T Single submitter hereditary breast carcinoma
c.1461+14A>G Single submitter hereditary breast carcinoma
c.1461+173dup Single submitter
c.1461+17G>A Single submitter hereditary breast carcinoma
c.1461+19C>T Single submitter hereditary breast carcinoma
c.1461+19dup Single submitter hereditary breast carcinoma
c.1461+20T>C Single submitter hereditary breast carcinoma
c.1461+345G>A Single submitter
c.1461+36A>G Single submitter
c.1461+9G>T Single submitter hereditary breast carcinoma
c.1462-12A>T Single submitter hereditary breast carcinoma

Uncertain significance 1969

Showing the top 300 by review status; the full set is in the sitemap.

c.1008+4A>G Multiple submitters hereditary neoplastic syndrome
c.1095+5G>A Multiple submitters hereditary neoplastic syndrome
c.1096-6T>G Multiple submitters hereditary breast carcinoma
c.1259+5G>A Multiple submitters hereditary neoplastic syndrome
c.1260-5T>G Multiple submitters hereditary neoplastic syndrome
c.1375+3A>G Multiple submitters hereditary breast carcinoma
c.1375+5G>A Multiple submitters hereditary neoplastic syndrome
c.1376-13A>G Multiple submitters hereditary neoplastic syndrome
c.1376-7_1376-4del Multiple submitters hereditary neoplastic syndrome
c.1461+3G>C Multiple submitters hereditary neoplastic syndrome
c.1461+4G>C Multiple submitters hereditary breast carcinoma
c.1461+5G>C Multiple submitters hereditary neoplastic syndrome
c.1461+6T>C Multiple submitters hereditary breast carcinoma
c.1462-12A>G Multiple submitters hereditary breast carcinoma
c.1462-?_1542+?del Multiple submitters hereditary breast carcinoma
c.1462-3C>G Multiple submitters hereditary breast carcinoma
c.1543-3C>T Multiple submitters hereditary neoplastic syndrome
c.319+3965C>T Multiple submitters CHEK2-related cancer predisposition
c.319+4A>G Multiple submitters hereditary neoplastic syndrome
c.319+5G>T Multiple submitters CHEK2-related cancer predisposition
c.320-3C>A Multiple submitters hereditary neoplastic syndrome
c.320-3C>G Multiple submitters hereditary neoplastic syndrome
c.444+3A>C Multiple submitters hereditary neoplastic syndrome
c.444+5G>A Multiple submitters hereditary neoplastic syndrome
c.444+5G>C Multiple submitters hereditary breast carcinoma
c.444+5G>T Multiple submitters hereditary neoplastic syndrome
c.444+9T>G Multiple submitters hereditary neoplastic syndrome
c.445-3T>G Multiple submitters hereditary neoplastic syndrome
c.592+4A>G Multiple submitters CHEK2-related cancer predisposition
c.683+4A>G Multiple submitters hereditary neoplastic syndrome
c.684-3del Multiple submitters hereditary neoplastic syndrome
c.686_688delGTG Multiple submitters hereditary neoplastic syndrome
c.793-3A>G Multiple submitters hereditary neoplastic syndrome
c.846+2dup Multiple submitters hereditary breast carcinoma
c.846+3A>C Multiple submitters hereditary breast carcinoma
c.846+4A>G Multiple submitters hereditary neoplastic syndrome
c.846+5G>A Multiple submitters hereditary neoplastic syndrome
c.846+5G>C Multiple submitters hereditary breast carcinoma
c.846+5G>T Multiple submitters hereditary breast carcinoma
c.847-3T>G Multiple submitters hereditary breast carcinoma
c.909-3C>G Multiple submitters hereditary neoplastic syndrome
c.909-4del Multiple submitters hereditary neoplastic syndrome
c.909-5T>A Multiple submitters hereditary breast carcinoma
c.909-6T>A Multiple submitters hereditary neoplastic syndrome
c.-3G>A Multiple submitters hereditary neoplastic syndrome
c.-3G>C Multiple submitters hereditary neoplastic syndrome
c.-6-12T>A Multiple submitters hereditary neoplastic syndrome
p.Ala104Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala104Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala158Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala158Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala190Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala190Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala190Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala230Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala230Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala230Val Multiple submitters CHEK2-related cancer predisposition
p.Ala237Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala237Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala237Val Multiple submitters bone osteosarcoma ⚠
p.Ala247Asp Multiple submitters hereditary breast carcinoma ⚠
p.Ala247Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala247Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala257Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala264Ser Multiple submitters CHEK2-related cancer predisposition ⚠
p.Ala294Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala322Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala334Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala334Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala334Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala334Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala392Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala392Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala392Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala402Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala402Val Multiple submitters hereditary breast carcinoma
p.Ala407Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala407Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala407Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala459Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala459Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala459Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala459Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala473Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala480Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala480Thr Multiple submitters hereditary nonpolyposis colon cancer ⚠
p.Ala480Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala513Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala513Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala527Ser Multiple submitters hereditary breast carcinoma ⚠
p.Ala527Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala530Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala537Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala540Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala540Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala541Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala91Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala91Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala91Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala94Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala94Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala98Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala98Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala9Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala9Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala9Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg117Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg117Met Multiple submitters hereditary breast carcinoma ⚠
p.Arg117Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg132Ile Multiple submitters hereditary breast carcinoma ⚠
p.Arg137_Tyr139del Multiple submitters hereditary neoplastic syndrome
p.Arg137Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg137Ser Multiple submitters hereditary neoplastic syndrome
p.Arg145Pro Multiple submitters CHEK2-related cancer predisposition ⚠
p.Arg148= Multiple submitters hereditary neoplastic syndrome
p.Arg148Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg148Lys Multiple submitters hereditary neoplastic syndrome
p.Arg148Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg180Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg181Gly Multiple submitters hereditary neoplastic syndrome
p.Arg181Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg195Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg217Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg240Thr Multiple submitters hereditary breast carcinoma ⚠
p.Arg262Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg318Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg318Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg318Pro Multiple submitters hereditary breast carcinoma ⚠
p.Arg346Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg346Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3Pro Multiple submitters hereditary breast carcinoma ⚠
p.Arg406Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg406Pro Multiple submitters hereditary breast carcinoma ⚠
p.Arg406Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg431Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg431Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg431Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg474Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg474Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg482Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg482Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg493Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg519Gly Multiple submitters hereditary nonpolyposis colon cancer ⚠
p.Arg521Gln Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg521Leu Multiple submitters hereditary breast carcinoma ⚠
p.Arg521Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg521Trp Multiple submitters Hereditary cancer ⚠
p.Arg523Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg535Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg95Gln Multiple submitters hereditary breast carcinoma
p.Arg95Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg95Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg95Pro Multiple submitters hereditary breast carcinoma ⚠
p.Asn105His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn105Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn105Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn110Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn110Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn110Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn112del Multiple submitters hereditary neoplastic syndrome
p.Asn112Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn154His Multiple submitters hereditary breast carcinoma ⚠
p.Asn154Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn154Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn154Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn166Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn184Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn185Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn186Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn186Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn186Ser Multiple submitters bone osteosarcoma ⚠
p.Asn186Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn196Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn196Ser Multiple submitters hereditary neoplastic syndrome
p.Asn269Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn281Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn316Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn341Asp Multiple submitters hereditary neoplastic syndrome
p.Asn341Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn352Asp Multiple submitters CHEK2-related cancer predisposition ⚠
p.Asn352His Multiple submitters hereditary breast carcinoma ⚠
p.Asn352Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn352Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn352Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asn405Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn446Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn503Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn503Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp101Glu Multiple submitters hereditary breast carcinoma ⚠
p.Asp101Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp101Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp111Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp111Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asp118Asn Multiple submitters hereditary neoplastic syndrome
p.Asp118Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp118Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp126Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp126His Multiple submitters hereditary breast carcinoma ⚠
p.Asp126Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp134Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp162Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp162Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp203Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp203Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp203Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp203Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp207Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp207Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp208del Multiple submitters hereditary neoplastic syndrome
p.Asp208Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp218Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp218Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp265Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp265Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp265His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp293Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp293Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp293Gly Multiple submitters hereditary breast carcinoma
p.Asp296Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp296Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp296His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp296Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp296Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp311Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp311His Multiple submitters hereditary breast carcinoma ⚠
p.Asp347Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp347Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp347His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp361His Multiple submitters bone osteosarcoma ⚠
p.Asp361Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asp368Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp409Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp409Glu Multiple submitters hereditary breast carcinoma ⚠
p.Asp409Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp409His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp438Asn Multiple submitters hereditary breast carcinoma ⚠
p.Asp438Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp438His Multiple submitters hereditary neoplastic syndrome
p.Asp438Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp461Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp461Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp461His Multiple submitters hereditary neoplastic syndrome
p.Asp470Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp470His Multiple submitters hereditary neoplastic syndrome
p.Asp470Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asp488Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp488Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp488Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asp488Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp497Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp497Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp497Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp6Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp6His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp77Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp77Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys108Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys108Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Cys121Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys121Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Cys124Phe Multiple submitters hereditary breast carcinoma
p.Cys124Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Cys18_Ser28del Multiple submitters hereditary neoplastic syndrome
p.Cys18Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys18Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys18Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys18Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Cys231Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys231Phe Multiple submitters hereditary neoplastic syndrome
p.Cys231Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys243Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys284Tyr Multiple submitters prostate cancer, hereditary ⚠
p.Cys324Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys324Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Cys362Arg Multiple submitters hereditary breast carcinoma ⚠
p.Cys362Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys385Arg Multiple submitters CHEK2-related disorder ⚠
p.Cys385Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys385Tyr Multiple submitters CHEK2-related disorder ⚠
p.Cys410Gly Multiple submitters hereditary breast carcinoma ⚠
p.Cys420Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys420Phe Multiple submitters hereditary breast carcinoma ⚠
p.Cys420Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys539Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln100Arg Multiple submitters hereditary breast carcinoma ⚠
p.Gln100Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln11Arg Multiple submitters hereditary breast carcinoma ⚠
p.Gln11His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln11Pro Multiple submitters CHEK2-related cancer predisposition ⚠
p.Gln20Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln20His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln27Arg Multiple submitters hereditary breast carcinoma ⚠
p.Gln27Glu Multiple submitters hereditary breast carcinoma ⚠
p.Gln27Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln29Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln29Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln330Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln330His Multiple submitters hereditary neoplastic syndrome ⚠